1569735
Descripción
Mapa Mental por hadeel.seraj-218296, actualizado hace más de 1 año
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Creado por hadeel.seraj-218296
hace casi 12 años
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disorders of
amino acid
metabolism
(cont..)
- Maple Syrup
Urine Disease
(MSUD)
- Autosomal
recessive
disorder
- a disorder in which the
body is unable to use the
amino acids isoleucine,
leucine, and valine in a
normal way.
- Excessive amounts of the branched-chain amino acids (valine,
leucine, and isoleucine) and their metabolites will build up in the
blood and spill into the urine and perspiration, giving them the
odour of maple syrup (which is how this disorder got its name).
- caused by a deficiency of the
branched-chain ketoacid
decarboxylase enzyme
- Clinical
presentation,
Newborn infants
present in the first
week of life with:
- vomiting
- difficult breathing
- sleepiness
- irregular muscle movement
- seizures
- coma
- vomiting
- leading to death in
few weeks if
untreated
- Diagnosis
- Demonstration of the three
essential branched chain amino
acids in the blood
- Demonstration of the three
essential branched chain amino
acids in the blood
- treatment
- Basic treatment involves restricting foods
and infant formula which contain very small
amounts of leucine, isoleucine, and valine,
are used to provide the intake of protein
and other nutrients necessary for growth
- Basic treatment involves restricting foods
and infant formula which contain very small
amounts of leucine, isoleucine, and valine,
are used to provide the intake of protein
and other nutrients necessary for growth
- Autosomal
recessive
disorder
- Homocystinuria
- Autosomal recessive
disorder of inherited
sulfur amino-acid IEM
- Autosomal recessive
disorder of inherited
sulfur amino-acid IEM
- clinical features
- Dislocation
of the lense
- Long fingers
(arachnodactyly)
- Pectus
excavatum
- Scoliosis
- Learning
disability
- Seizures
- Thrombophilia
- Dislocation
of the lense
- Diagnosis
- 1-Positive
cyanide
nitroprusside
test (detect
increased
levels of
homocystine in
urine)
- 2-Raised plasma homocystine level
- 3-Molecular studies to
detect mutations in genes
leading to deficiencies of
enzymes involved in the
synthesis of cofactors for
cystathionin B-synthase.
- 1-Positive
cyanide
nitroprusside
test (detect
increased
levels of
homocystine in
urine)
- treatment
- 1- Low Methionine diet
- 2-Cysteine supplemintation
- 3-Pyridoxine (Vit B6 enzyme cofactor)
- 1- Low Methionine diet
- Autosomal recessive
disorder of inherited
sulfur amino-acid IEM
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