Inborn Error of Metabolism
Inborn Error of Metabolism
Inborn Error of Metabolism
Metabolism
Nursing care, pharmacological &
non- pharmacological measures for dealing with
the such health issues of newborns
Facilitator:
Rubina kousar
RN,RM,BScN Post RN
Metabolism
What are Inborn Error Of
Metabolism
Inborn errors of metabolism are rare
genetic (inherited) disorders in which the
body cannot properly turn food into energy.
The disorders are usually caused by defects
in specific proteins (enzymes) that help
break down (metabolize) parts of food.
In most of the disorders, problems arise due to
accumulation of substances which are toxic or
interfere with normal function, or to the effects
of reduced ability to synthesize essential
compounds.
Inborn errors of metabolism are now often
referred to as congenital metabolic diseases or
inherited metabolic diseases.
Classification of Inborn metabolic
Errors
1. Amino acid metabolism
2. Carbohydrate metabolism
3. Lipid metabolism
4. Protein metabolism
5. Pigment metabolism
6. Unknown biochemical defects
Classification Of IEM
Lipid Metabolism:
Progressive lipodystrophy
Lipid storage disorders
Gaucher
Hypolipoproteinemia
Protein Metabolism:
Immunoglobulin deficiencies
Absent clotting factors
Hemophilia
Christmas disease
Hypoprothrombinemia)
Unknown biochemical defect:
Osteogenesis imperfecta
Marfan syndrome
Pigment metabolism:
Albinism
Crigler-Najjar dis
Primary hemochromatosis
Common Inborn
Error Of
Metabolism
1. Phenylketonuria (PKU)
is an inborn error of metabolism that results in
decreased metabolism of the amino acid
phenylalanine.
In PKU
Blood phenylalanine >6 -10 mg/dl or (360- 600 µmol/L)
BREAKDOWN
Dietary Phenylalanine
sources, Hydroxylase
TYROSINE
particularly Phenylalanine
plant proteins
BODY
PROTEINS
The Abnormal Metabolism Of Phenylalanine
Hydroxyphenylacetic Acid
Dietary Phenylalanine
sources, Hydroxylase
Phenylalanine
particularly
plant proteins
BODY
PHENYLACETIC ACID
PROTEINS
Symptoms Of PKU
Infants with classic PKU appear normal until they
are a few months old.
Without treatment with a special low-
phenylalanine diet, these children develop
permanent intellectual disability.
Seizures,
Delayed development
Behavioral problems
And psychiatric disorders
Untreated individuals may have a musty or
mouse-like odor as a side effect of excess
phenylalanine in the body.
Symptoms Of PKU
It is an autosomal
recessive, metabolic
disorder affecting
branched-chain amino
acids.
It is one type of ”organic
acidemia” the disease is
named for the presence of
sweet- smelling urine, with
an odor similar to that of
maple syrup.
Is a potentially deadly disorder that affects the way
the body breaks down three amino acids, leucine,
isoleucine, and valine.
(Used as supplements for body (muscle) building.)
People with MSUD have a mutation ,therefore, they
can't break down these amino acids.
They end up with dangerously high levels of these
amino acids in their blood, causing the rapid
degeneration of brain cells and death if left
untreated.
There are several types of maple syrup urine
disease. The most common (classic) form typically
will produce symptoms in newborn infants aged 4-7
days.
These symptoms may include:
Poor feeding
Vomiting
Poor weight gain
Increasing lethargy (difficult to wake up)
Characteristic burned sugar smell to urine
Changes in muscle tone, muscle spasms, and
seizures
Babies are screened for MSUD within 24 hours after
birth.
A blood sample taken from the baby's heel is analyzed
for high leucine levels.
If maple syrup urine disease is suspected based on the
physical symptoms, especially the characteristic urine
odor, a blood test for amino acids can be done.
Treatment involved dietary restriction of the
amino acids leucine, isoleucine, and valine.
This treatment must begin very early to prevent
brain damage.
Babies with the disease must eat a special
formula that does not contain the amino acids
leucine, isoleucine, and valine.
As the person grows to adulthood, he or she
must always watch their diet, avoiding high
protein foods such as meat, eggs, and nuts.
Gene therapy is also a potential future treatment
for patients with MSUD. This would involve
replacing the mutated gene with a good copy,
allowing the patient's cells to generate a functional
protein complex and break down the excess amino
acids
4. Galactosemia
Galactosemia is an inherited autosomal-
recessive disorder of galactose metabolism.
People with Galactosemia cannot tolerate any
form of milk.
The sugar lactose is made up of equal parts of
glucose and galactose; thus a deficiency of the
enzymes involved in galactose metabolism can
lead to severe clinical consequences.
Early symptoms may include:
Jaundice of the skin and whites of the eyes
Vomiting
Poor weight gain
Low blood sugar (hypoglycemia)
Feeding difficulties
Lethargy
Convulsions
Later signs and symptoms may include:
Opaque lenses of the eyes ( Cataract )
Enlarged liver, enlarged spleen
Mental retardation
Sepsis caused by a Escherichia coli
Cirrhosis liver failure
Kidney problems
Long-term complications include:
Poor growth
Learning disabilities
Speech and language problems
Fine and gross motor skill delays
Ovarian failure (in girls)
Cataracts
Decreased bone mineral density
The Treatment for Galactosemia is the removal of
galactose from your diet.
All lactose products must be totally avoided.
Milk and milk products contain the most amount of
lactose; however it is also present in other foods such
as organ meats and processed meats.
Infants will need to be fed with food that is lactose
free such as soy formula, meat-base formula,
There is no definite cure for Galactosemia, the
condition is life long and it can only be controlled.
Advise a calcium supplement for patients with
Galactosemia as Milk is an important source of
calcium for a growing child.
Prevention
Genetic counselling and prenatal diagnosis,
Most of the IEM are single gene defects,
inherited in an autosomal recessive manner,
with a 25% recurrence risk. Therefore when
the diagnosis is known and confirmed in the
index case, prenatal diagnosis can be offered
wherever available for the subsequent
pregnancies
Neonatal screening:
Tandem mass spectrometry is used in some
countries for neonatal screening for IEM.
Thankyou