disorders of amino acid metabolism (cont..)

Maple Syrup Urine Disease (MSUD)
1. Autosomal recessive disorder
2. a disorder in which the body is unable to use the amino acids isoleucine, leucine, and valine in a normal way.
3. 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).
4. caused by a deficiency of the branched-chain ketoacid decarboxylase enzyme
5. Clinical presentation, Newborn infants present in the first week of life with:
  1. vomiting
  2. difficult breathing
  3. sleepiness
  4. irregular muscle movement
  5. seizures
  6. coma
6. leading to death in few weeks if untreated
7. Diagnosis
  1. Demonstration of the three essential branched chain amino acids in the blood
8. treatment
  1. 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
Homocystinuria
1. Autosomal recessive disorder of inherited sulfur amino-acid IEM
2. Autosomal recessive disorder of inherited sulfur amino-acid IEM
3. clinical features
  1. Dislocation of the lense
  2. Long fingers (arachnodactyly)
  3. Pectus excavatum
  4. Scoliosis
  5. Learning disability
  6. Seizures
  7. Thrombophilia
4. Diagnosis
  1. 1-Positive cyanide nitroprusside test (detect increased levels of homocystine in urine)
  2. 2-Raised plasma homocystine level
  3. 3-Molecular studies to detect mutations in genes leading to deficiencies of enzymes involved in the synthesis of cofactors for cystathionin B-synthase.
5. treatment
  1. 1- Low Methionine diet
  2. 2-Cysteine supplemintation
  3. 3-Pyridoxine (Vit B6 enzyme cofactor)

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disorders of amino acid metabolism (cont..)

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