Mousy odour urine is seen in
|B||Maple syrup urine disease|
|D||None of the above|
[A] Metabolic Disorder of phenylalanine catabolism
The major metabolic disorders associated with impaired ability to convert phenylalanine to tyrosine falls into three broad groups: -
a. Classic phenyl ketonuria or Type I - phenylalanemia : Defect in phenylalanine hydroxylase
b. Phenylalanemia Type II and III defect in dihydrobiopterin reductase
c. Type IV and V → defect in dihydrobiopterin biosynthesis.
Catabolites phenyl acetate and others are excreted in urine and responsible for “Mousy odour”
a. Mental Retardation (major problem)
b. Seizures, psychoses, Eczema, “ Mousy odor”
a. Guthrie’s test (Microbiological test in blood: phenylalanine is necessary for growth of bacillus subtilis)
b. 10% ferric chloride test — screening test — on fresh urine —i Emerald green colour.
c. Fluorometric assay
d. Dinitrophenylhydrazine →yellow precipitate. with fresh or old urine.
- Prenatal diagnosis by Molecular probe. lit -
a. Diet restriction of phenylalanine but not completely
b. It is necessary for normal growth. And may be terminate by age 6 yrs.
c. Mental retardation can be prevented if diet restriction is initiated within few weeks after birth.
[B] Maple syrup urine disease (Branched chain Ketonuria)→due to absence of &keto acid
decarboxylase, leads to defect in metabolism of Branch chain amino acid- leucine, isoleucine and valine (their level ‘ted in blood and plasma)
a. Maple syrup or Burnt sugar odour of urine
b. In this FeCl2 test — Gives Blue color. (Navy Blue colour)
[C] Isovaleric Acidemia - Also known as sweety foot syndrome →due to deficiency of Isovaleryl Co-A dehydrogenase. C/F→“Cheesy odor” of breath and body fluids.