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    Amal Saad-hussein

    • I am a Professor of Environmental Health and Preventive Medicine, I have several publications in the field of health ... moreedit
    The duration of hepatitis B vaccine (HBV) protection is controversial, hence the need for a booster dose specially in context of high risk population. This research aimed to study the efficacy of HBV vaccine in high risk children... more
    The duration of hepatitis B vaccine (HBV) protection is controversial, hence the need for a booster dose specially in context of high risk population. This research aimed to study the efficacy of HBV vaccine in high risk children subjected to repeated blood transfusion 10-16 years post vaccination. The study included 48 patients with hemato-oncological disorders treated in the onc-haematology centre, at Mansoura university, Egypt, subjected to repeated blood transfusion. They were born after 1992 (year of mandatory HBV vaccination for newborns in Egypt) and before 1998. The control group comprised 32 apparently healthy children with matched age and sex. All the children were subjected to blood testing for hepatitis B surface antigen (HBsAg), and hepatitis B surface antibody (HBsAb) titre. The results revealed that the percentage of cases having HBsAb titres below the protective level (<10 IU/L) (39.6%) was significantly higher than that of the control group (18.8%). While, the percentage of patients positive for HBsAg (31.3%) did not differ significantly compared to the controls (18.8%). Within the cases, there was no significant difference considering HBsAb titre (HBsAb <10 IU/L or $10 IU/L) between the positive and negative HBsAg subjects. Also, the presence or absence of protective level of HBsAb titre could not be attributed to the frequency of blood transfusion in the included cases. Thus, the present study concluded that high risk groups of children with repeated blood transfusion are significantly risky for HBV infection secondary to loss of HBsAb protective titre. Thus, booster dose to this group should be considered.
    AIM: The study aimed to investigate effects of organic dust exposure from different sources on aflatoxin B1-albumin adducts (AFB1/Alb), and role of glutathione S-transferase (GST) gene polymorphism in hepatotoxicity of (AFB1) among... more
    AIM: The study aimed to investigate effects of organic dust exposure from different sources on aflatoxin B1-albumin adducts (AFB1/Alb), and role of glutathione S-transferase (GST) gene polymorphism in hepatotoxicity of (AFB1) among exposed workers. MATERIAL AND METHODS: Liver enzymes, AFB1/Alb, and GST polymorphism were estimated in 132 wheat flour dust and 87 woods sawmill workers, and 156 controls.RESULTS: Results revealed that AFB1/Alb and liver enzymes were significantly elevated in exposed workers compared to controls, and were significantly higher in sawmill workers compared to flour workers. AFB1/Alb in flour and sawmill workers with GSTT1 and GSTM1&GSTT1 null genotypes were significantly higher than controls, and in sawmill workers with GSTM1&GSTT1 null than flour workers. Liver enzymes (ALT and AST) in sawmill workers were significantly higher than flour workers and controls in all GST polymorphism; except in GSTT1 polymorphism, where these enzymes were significantly higher...
    The health benefits of clean water, improved sanitation and better hygiene are now more recognized than ever before. The objective of the present study focused on monitoring the progress of behavioural changes towards appropriate... more
    The health benefits of clean water, improved sanitation and better hygiene are now more recognized than ever before. The objective of the present study focused on monitoring the progress of behavioural changes towards appropriate behaviours related to water, environment and sanitation (WES). This was achieved through assessing the baseline community behaviours towards WES, exploring to what extent community hygienic behaviours had changed towards desirable and sustainable behaviours, through monitoring progress. The expected behavioural changes are results of an integrated package; safe water supply, sanitation, and hygiene education interventions produced by governmental and non-governmental organizations. The monitoring progress consisted of three household surveys that were administered over three years in four Egyptian districts within three Governorates; Fayoum, Beni Suef, and El-Menia. Behavioural changes were detected through special observation checklist indicators. These indicators were 7, 6, and 9 indicators each for personal hygienic behaviours, proper handling of drinking water, and proper use and maintenance of simple constructed sanitary latrines. The results from the baseline to mid-term and final surveys suggested improvement in the majority of the household behaviours towards the desirable behaviours. The proportions of the householders who practiced desirable behaviours were not to the same levels in the four districts. The results provide support to the concept that integrated interventions can produce a significant sustainable improvement in health promotion.
    Organochlorines (OCs) are groups of highly toxic pesticides with known immunotoxicity. The present work aimed to study the potential association between serum residues of OCs and the risk of developing systemic lupus erythematosus (SLE)... more
    Organochlorines (OCs) are groups of highly toxic pesticides with known immunotoxicity. The present work aimed to study the potential association between serum residues of OCs and the risk of developing systemic lupus erythematosus (SLE) as well as correlating to the clinical-laboratory manifestations in a sample of Egyptian SLE patients. A cross-sectional study was conducted on 132 patients environmentally exposed to OCs. Patients were diagnosed as SLE based on the American College of Rheumatology (ACR) revised criteria. Systemic Lupus Erythematosus Disease Activity Index-2000 (SLEDAI-2K) score was calculated to stratify the disease severity. Blood and urine samples were collected to measure the levels of OCs, serological markers, and urinary protein. The most frequently detected OCs were p,p’-DDE; lindane; and hexachlorobenzene (HCB). The risk of developing SLE was significantly associated with detected p,p’-DDE and HCB (B value 7.704 and 14.33, respectively). Hexachlorobenzene, in...
    BackgroundEpigenetic represents a study of occurred heritable gene expression changes without changing in the DNA sequence. It includes DNA methylation and miRNA expression that attract increasing attention as potential links between the... more
    BackgroundEpigenetic represents a study of occurred heritable gene expression changes without changing in the DNA sequence. It includes DNA methylation and miRNA expression that attract increasing attention as potential links between the genetic and environmental determinants of health and disease. Pesticide exposure is associated with adverse health effects and DNA methylation due to oxidative stress induced following its exposure. This study aimed to define the association of genetic polymorphisms of XRCC1, PON1, GSTP1 and GST genes with global genes DNA methylation in urban and rural occupationally pesticides exposed workers.MethodsThis study included 100 pesticides exposed workers; 50 rural sprayers (RE) and 50 urban researchers (UE). Controls included equal numbers. DNA methylation of global genes was evaluated by pyrosequencing assay. XRCC1, PON1 and GSTP1 genotyping were assessed by PCR–RFLP, and GST M1 and T1 were performed by PCR.ResultsThe results of this study revealed th...
    BACKGROUND: Annona muricata (Soursop) has an antimicrobial activity toward various pathogenic microorganisms which support its ethnomedicinal for the treatment of many infectious diseases. AIM: Aim of the present study to evaluate the... more
    BACKGROUND: Annona muricata (Soursop) has an antimicrobial activity toward various pathogenic microorganisms which support its ethnomedicinal for the treatment of many infectious diseases. AIM: Aim of the present study to evaluate the relation between antimicrobial activities of terpenoids extracted from different soursop parts with the isolated endophytic fungi. METHODS: Endophytic fungal species of pulp and peel of Annona fruit along with those of seeds were isolated. Salkowski test was used for qualitative screening of terpenoids in plant and the isolated endophytic Aspergillus niger strain SH3. RESULTS: Endophytic A. niger strain SH3 and Annona seed extract showed high terpenoid content indicated by the high intensity of reddish-brown colour. GC/Mass analysis revealed six compounds of terpenoids from endophytic A. niger strain SH3 extract and four compounds from seed extract with different retention times. The antimicrobial assay was performed using A. niger strain SH3 extract a...
    Background Excess exposure to pesticides induces oxidative stress and causes alteration in the lipid profile Objectives The study aimed to evaluate the effects of Zinc (Zn) supplementation on the oxidant/antioxidant and lipid status in... more
    Background Excess exposure to pesticides induces oxidative stress and causes alteration in the lipid profile Objectives The study aimed to evaluate the effects of Zinc (Zn) supplementation on the oxidant/antioxidant and lipid status in pesticide sprayers. Methods Forty pesticide sprayers were included in the study. Blood lipids, malondialdehyde (MDA), glutathione peroxidase (GPx), superoxide dismutase (SOD), and Zn were estimated; before and after Zn supplementation. Results Statistical analysis revealed that after Zn supplementation, total cholesterol (TC), triglycerides (TG), low density lipoprotein (LDL), very low density lipoprotein (VLDL), and MDA were significantly decreased. However, there was a significant increase in the high density lipoprotein (HDL), SOD, GPx, and Zn levels. After Zn supplementation, significant inverse correlations were detected between the Zn and the levels of MDA, TG, and VLDL, while positive correlation between Zn and the levels of HDL and TC. Conclus...
    Among the numerous pesticides, anticholinesterase compounds are widely used. Their toxicity induced by cholinesterase inhibition at the synapses and neuromuscular junctions, leading to neurological disorders. Inhibition of... more
    Among the numerous pesticides, anticholinesterase compounds are widely used. Their toxicity induced by cholinesterase inhibition at the synapses and neuromuscular junctions, leading to neurological disorders. Inhibition of acetylcholinesterase (AChE) and butyrylcholinesterase (BuChE) has been used as sensitive biomarkers for pesticides exposure. In the present study, AChE and BuChE levels were estimated in agricultural workers exposed to carbamate and organophosphorus pesticides with average 9.8±3.5 years relative to the controls. The toxic effects of pesticides may be attributed to induction of oxidative stress and alteration in antioxidant system. Our results showed significant decrease in AChE and BuChE levels with inhibition percentage of 39% and 61% respectively, in exposed workers than controls. Additionally, there was a significant increase in malondialdehyde (MDA) as an oxidative stress marker. Concerning antioxidant status, there was significant decrease in reduced glutathi...
    Pesticide exposure may be associated with increased risk of genotoxicity and carcinogenesis. These risks may be affected by polymorphisms of genes for glutathione transferase-dependent metabolism of pesticides and for DNA repair. We... more
    Pesticide exposure may be associated with increased risk of genotoxicity and carcinogenesis. These risks may be affected by polymorphisms of genes for glutathione transferase-dependent metabolism of pesticides and for DNA repair. We studied the prevalence of GSTP1 and XRCC1 polymorphisms and their possible correlation with DNA damage following prolonged pesticide exposure. DNA damage was estimated by the comet assay in peripheral blood samples from 51 pesticide-exposed workers and 50 controls. GSTP1 (105) and XRCC1 (399 and 194) genotypes were identified by restriction fragment length analysis. Individuals carrying theGSTP1 Ile-Ile or XRCC1399 Arg-Arg genotypes showed greater DNA damage than observed for other alleles.
    Cytochrome P450 CYP1A1 helps detoxify the potential carcinogens in tobacco smoke, it was reported that polymorphisms in the coding gene result in variation in the expression and activity levels which alter metabolism and clearance of... more
    Cytochrome P450 CYP1A1 helps detoxify the potential carcinogens in tobacco smoke, it was reported that polymorphisms in the coding gene result in variation in the expression and activity levels which alter metabolism and clearance of carcinogens and therefore modify cancer risk. In this work, we aimed to identify CYP1A1 gene polymorphisms associated with lung cancer in Egyptian population and to examine the interaction effect with Tobacco smoking in modulating disease risk. A case-control study was conducted on 150 unrelated lung cancer patients and 150 unrelated control subjects. Genomic DNA was extracted and sequencing analysis of CYP1A1 gene was performed on ABI PRISM 3100 genetic analyzer. Three variants in CYP1A1 gene were identified in heterozygous forms in lung cancer patients I462V, T461N and I286T. A combined variant T461N/ I462V associated with lung cancer and those who carried this variant were 2-times more likely to develop lung cancer (OR = 2.03, 95% CI = 1.81-2.29, P =...
    ... Mohamed Mokhles, Rasha El Ashry, Mohamed Sedky, Nahed Emara, Maha Rasheed, 1 6 2 3 3 Maha EL-Wassef, Amal Saad, Youcef ElTonbary 4 5 6 Departments of Internal Medicine, Pediatric, Clinical Pathology, Medical Biochemistry, and 1 2 3 4... more
    ... Mohamed Mokhles, Rasha El Ashry, Mohamed Sedky, Nahed Emara, Maha Rasheed, 1 6 2 3 3 Maha EL-Wassef, Amal Saad, Youcef ElTonbary 4 5 6 Departments of Internal Medicine, Pediatric, Clinical Pathology, Medical Biochemistry, and 1 2 3 4 ...
    A b s t r a c t Introduction: Chronic obstructive pulmonary disease (COPD) is a leading cause of disability and death. The most common cause of COPD is smoking. There is evidence suggesting that genetic factors influence COPD... more
    A b s t r a c t Introduction: Chronic obstructive pulmonary disease (COPD) is a leading cause of disability and death. The most common cause of COPD is smoking. There is evidence suggesting that genetic factors influence COPD susceptibility and vari-ants in several candidate genes have been significantly associated with COPD. In this study, we aimed to investigate the possible association of the TNF-α –308, SPB+1580, IL-13 –1055 gene polymorphisms and latent adenovirus C infec-tion with COPD in an Egyptian population. Material and methods: Our study included 115 subjects (75 smokers with COPD, 25 resistant smokers and 15 non-smokers) who were subjected to spirometric measurements, identification of adenovirus C and genotyping of TNF-α –308G/A, SP-B+1580 C/T and IL-13 –1055 C/T polymorphisms by real-time PCR. Results: The adenovirus C gene was identified in all subjects. The distribution of TNF-α genotypes showed no significant differences between different groups. However, homozygou...
    Introduction: The role of The 8-oxoguanine DNA glyco-sylase (OGG1) is to delete DNA parts that have been damaged by oxygen radicals, thus preventing lung cancer. Objective: This work is aiming to study the relationship between the... more
    Introduction: The role of The 8-oxoguanine DNA glyco-sylase (OGG1) is to delete DNA parts that have been damaged by oxygen radicals, thus preventing lung cancer. Objective: This work is aiming to study the relationship between the variation in the blood levels of the 8-oxoguanine DNA glycosylase (OGG1), smoking and risk of lung cancer. Material and Methods: This study included 36 patients diagnosed as bronchogenic carcinoma, divided pathologically into 30 non small cell lung cancer (NSCLC) patients and 6 small cell lung cancer (SCLC) patients, 40 non-smoker and 40 smokers’ healthy subjects, taken as control. They were subjected to medical history taking, clinical examination, chest radiography and Quantitative RT- PCR of mRNA levels of OGG1 in blood. Results: There was a non significant increase in the mean level of the OGG1 in the non smoker group compared to the cancer and smokers’ groups (p&gt;0.5). There was a non statistical significant decrease in the mean value of the OGG1 in...
    Safe water supply, sanitation facilities and safe environments are the priorities of the communities in the villages of Upper Egypt. However, personal hygienic behaviors need improvement for substantial promotion of family health. This... more
    Safe water supply, sanitation facilities and safe environments are the priorities of the communities in the villages of Upper Egypt. However, personal hygienic behaviors need improvement for substantial promotion of family health. This cannot be met without the full participation of women in their various roles in their communities. Accordingly, 375 females belonging to rural villages of Egypt (VHVs) volunteered to have a role in health and sanitation aspects and disseminate hygienic messages to their communities. The objective of this study was to assess and upgrade the levels of awareness, attitude and practice of VHVs towards environmental sanitation, sanitary housing, personal hygiene, safe water, food safety, sanitary sewage and refuse disposals. Implementation of environmental health education courses resulted in significant improvement of VHVs&amp;amp;amp;amp;amp;#39; awareness, attitude and practice towards the majority of the environmental topics that were addressed. Similar extensive courses are recommended for the promotion of environmental sanitation in other communities.
    Objective: The present study aimed to clarify the respiratory health hazards of occupational exposure to formaldehyde (HCHO) in the pathology laboratories, and the role of spirometry and cytogenetic study in prediction of its respiratory,... more
    Objective: The present study aimed to clarify the respiratory health hazards of occupational exposure to formaldehyde (HCHO) in the pathology laboratories, and the role of spirometry and cytogenetic study in prediction of its respiratory, cytotoxic and ...
    Arsenic level of hair samples of apparently healthy Egyptian was measured by means of hydride atomic absorption spectrophotometery. It ranged between 0.04 and 1.04 mg As/kg hair, about 55% of the analysed hair samples were within the... more
    Arsenic level of hair samples of apparently healthy Egyptian was measured by means of hydride atomic absorption spectrophotometery. It ranged between 0.04 and 1.04 mg As/kg hair, about 55% of the analysed hair samples were within the range of allowable values (0.08-0.25 mg As/kg hair), but 45% were not. There were no considerable sex-related differences (0.303 and 0.292 mg As/kg hair for males and females, respectively). Different educational levels did not influence it either, when the effect of the age had been excluded. Children and adolescents proved to be more susceptible to arsenic as their mean levels (0.353 microg/g), and were significantly higher than those in the adults (0.233 microg/g). Smoking and some dietary habits had an important role in the elevation of arsenic levels among the nonoccupational Egyptian population: 60% of smokers and 66.7% of indoor passive smokers had arsenic levels &amp;gt;0.25 mg As/kg hair. Arsenic levels were also dependent on the kind of smoking, as hair arsenic of the subject smoking molasses tobacco was found to be significantly higher than that of cigarette smokers (0.459 and 0.209 mg As/kg hair, respectively). The frequency of meat and fish consumption per week was also found to be positively, significantly correlated with arsenic levels. On the other hand, the frequency of consumption of fruits, fresh and cooked vegetables, milk and milk products per week beneficially influenced the arsenic level of the hair samples examined. Arsenic content of the consumed water in Egypt was 0.001 mg/l, which is below the maximum drinking water level allowed by World Health Organisation (WHO). Therefore, the arsenic content of domestic tap water hardly contributed to the arsenic exposure of the Egyptian population in the regions of the study. It is likely that exposure routes by smoking, fish and animal protein consumption are the principal cause of arsenic accumulation in the general Egyptian population.
    Objectives Exposure to wood dust may lead to impairment of the lung functions. Microsomal epoxide hydrolase enzyme (EPHX1) was shown to take part in protection against oxidative stress. An alteration in enzyme activity might be associated... more
    Objectives Exposure to wood dust may lead to impairment of the lung functions. Microsomal epoxide hydrolase enzyme (EPHX1) was shown to take part in protection against oxidative stress. An alteration in enzyme activity might be associated with its gene polymorphisms. In vitro polymorphisms in exons 3 (His113Tyr) and 4 (Arg139His) lead to reduced activity (slow allele) and increased activity (fast allele). Macrophage inflammatory protein 2 (MIP-2) is produced in rat lung epithelial cells after exposure to fine particles. We aimed to investigate the associations between mEPHX1 polymorphisms (in exon 3 and 4) and lung function in furniture workers and assessment of MIP-2 effect. Methods Our study was performed on 70 wood dust exposed male workers and 70 matched normal controls subjects. Ventilatory function tests were measured by spirometer, MIP-2 was performed by ELISA methods and EPHX gene was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) metho...
    AIM: The study aimed to investigate effects of organic dust exposure from different sources on aflatoxin B1-albumin adducts (AFB1/Alb), and role of glutathione S-transferase (GST) gene polymorphism in hepatotoxicity of (AFB1) among... more
    AIM: The study aimed to investigate effects of organic dust exposure from different sources on aflatoxin B1-albumin adducts (AFB1/Alb), and role of glutathione S-transferase (GST) gene polymorphism in hepatotoxicity of (AFB1) among exposed workers. MATERIAL AND METHODS: Liver enzymes, AFB1/Alb, and GST polymorphism were estimated in 132 wheat flour dust and 87 woods sawmill workers, and 156 controls.RESULTS: Results revealed that AFB1/Alb and liver enzymes were significantly elevated in exposed workers compared to controls, and were significantly higher in sawmill workers compared to flour workers. AFB1/Alb in flour and sawmill workers with GSTT1 and GSTM1&GSTT1 null genotypes were significantly higher than controls, and in sawmill workers with GSTM1&GSTT1 null than flour workers. Liver enzymes (ALT and AST) in sawmill workers were significantly higher than flour workers and controls in all GST polymorphism; except in GSTT1 polymorphism, where these enzymes were significantly higher...
    Ceramic workers are at a high risk of developing respiratory problems as they are exposed to high levels of respirable dust containing silica and high microbial counts, including high Aspergillus counts. The aim of the study was to study... more
    Ceramic workers are at a high risk of developing respiratory problems as they are exposed to high levels of respirable dust containing silica and high microbial counts, including high Aspergillus counts. The aim of the study was to study the percentage of ceramic workers with positive Aspergillus (A.) through polymerase chain reaction (PCR) and specific IgE (sIgE) for the different Aspergillus species. PCR and specific IgE (sIgE) for the different Aspergillus species (A. flavus, A. fumigatus and A. niger) were estimated in 40 ceramic workers and 56 control subjects. Results revealed that 32.5% of the workers' sputum was PCR positive for Aspergillus. About 69.2% of them were A. flavus positive, 15.4% A. niger positive, 7.7% A. fumigatus positive and 7.7% A. flavus and A. fumigatus positive. The percentage change in sIgE for A. fumigatus between the workers and their controls was over 100%, while less than 50% for the other two species. The sIgE levels for the three Aspergillus species were not significantly correlated with the duration of exposure. Fungal exposure could be considered potential hazardous problem in ceramic industry. There were no significant correlations between the duration of exposure and the sIgE for the different Aspergillus species
    Research Interests:
    Extensive allele diversity is observed in HLA associations with response to HCV combined therapy (pegylated interferon+ ribavitin) in different global ethnic populations. The aim of the study is to assess the frequency and association of... more
    Extensive allele diversity is observed in HLA associations with response to HCV combined
    therapy (pegylated interferon+ ribavitin) in different global ethnic populations. The aim
    of the study is to assess the frequency and association of certain HLA-class I alleles in Egyptian
    persons with persistent HCV and others with sustained viral response (SVR).
    Material and methods: The study was a retrospective cohort study that included 246 HCV
    patients who received combined therapy; 106 cases responded to treatment (SVR) and 140
    individuals did not respond to treatment (persistent HCV infection). Both groups are subjected
    to genotyping for HLA-class I.
    Results: According to logistic regression analysis, Cw17 was considered as the most predictor
    allele as it was the highest significant allele (OR =16.70; 95% CI: 2.64–105.58; P = 0.003), whereas
    the presence of the HLA-B45 and HLA-B27 alleles has a 19.35-fold risk and 15.7 fold risk,
    respectively of non-response to interferon therapy in chronic HCV patients (OR= 19.35; 95%
    CI: 1.05–357.24; P = 0.04) and (OR= 15.69; 95% CI: 1.179–208.9; P =0.04) can act also as high
    predictor alleles, and the lowest significant predictor allele was B44 (OR = 6.535; 95% CI: 1.55–
    27.63; P = 0.01). The presence of the HLA-A alleles might have a limited role in prediction for
    the non-responders, as the A32 was significantly higher among the SVR patients, but, it cannot have
    a predictor role (OR: 0.161, CI: 0.03–1.056, P = 0.049).
    Conclusion: Cw17, HLA-B45, and HLA-B27 alleles can predict the nonresponders to HCV
    combined therapy.
    The role of The 8-oxoguanine DNA glyco-sylase (OGG1) is to delete DNA parts that have been damaged by oxygen radicals, thus preventing lung cancer. Objective: This work is aiming to study the relationship between the variation in the... more
    The role of The 8-oxoguanine DNA glyco-sylase (OGG1) is to delete DNA parts that have been damaged by oxygen radicals, thus preventing lung cancer.
    Objective: This work is aiming to study the relationship between the variation in the blood levels of the 8-oxoguanine DNA glycosylase (OGG1), smoking and risk of lung cancer.
    Material and Methods: This study included 36 patients diagnosed as bronchogenic carcinoma, divided pathologically into 30 non small cell lung cancer (NSCLC) patients and 6 small cell lung cancer (SCLC) patients, 40 non-smoker and 40 smokers’ healthy subjects, taken as control. They were subjected to medical history taking, clinical examination, chest radiography and Quantitative RT- PCR of mRNA levels of OGG1 in blood.
    Results: There was a non significant increase in the mean level of the OGG1 in the non smoker group compared to the cancer and smokers’ groups (p>0.5). There was a non statistical significant decrease in the mean value of the OGG1 in the NSCLC compared to that of SCLC (p>0.5). There was statis-tical highly significant decrease in the mean value of the OGG1 in cases of adenocarcinoma compared to that in cases of squamous cell carcinoma and SCLC (p<0.0001).
    Conclusion: The decreased in the levels of OGG1 in blood could be a risk factor for lung cancer and was associated with adenocarcinoma. A substantial fraction of lung cancer cases might result from a combination of smoking and reduced OGG1 level.
    Key Words: OGG1 – RT PCT – Lung cancer.
    Dietary control of classic phenylketonuria (PKU) needs restriction of natural proteins; adequate protein intake is achieved by adding low phenylalanine (phe) formulae. The adequacy of this diet for normal bone mineralization had not been... more
    Dietary control of classic phenylketonuria (PKU) needs restriction of natural proteins; adequate protein intake is achieved by adding low phenylalanine (phe) formulae. The adequacy of this diet for normal bone mineralization had not been sufficiently evaluated. Our aim was to evaluate and follow up bone mineral density (BMD) in children and adolescents with PKU within a 2-year time interval to assess the adequacy of a phenylalanine restricted diet for bone mineralization and to search for a possible relationship between BMD, dietary control and blood phenylalanine (phe) concentrations. Thirty-two patients with classic PKU (3-19 years) were evaluated for their bone mineral status using dual energy X-ray absorptiometry (DEXA) both at the beginning (baseline) and the end (follow-up) of the study. Low BMD was detected in 31.25% at the start and in 6.25% of patients after 2 years follows-up. No relationship was found between BMD and the duration of diet compliance and phe level as well. In this study the low BMD detected in our patients was both at baseline and follow-up independent of diet restriction. A yearly DEXA would be highly beneficial for early detection and treatment, thus preventing osteoporosis and decreasing the risk of fractures. We also suggest the importance of searching for new emerging therapies such as enzyme substitution or gene therapy as low protein diet compliance was not enough to maintain normal bone mineral density.

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