Mousy (musty) odour of urine is feature of

Ans. a (Phenylketonuria) (Ref. Harper's Biochemistry 25th/pg. 335,815)INBORN ERRORS OF AMINO ACID METABOLISM ASSOCIATED WITH ABNORMAL ODORInborn error of metabolismUrine odor1Glutaric acidemia (type II)Sweaty feet, acrid2HawkinsinuriaSwimming pool3Isovaleric acidemiaSweaty feet, acrid4Maple syrup urine diseaseMaple syrup/Burnt sugar5HypermethioninemiaBoiled cabbage6Multiple carboxylase deficiencyTomcat urine7Oasthouse urine diseaseHops-like8PhenylketonuriaMousy or musty9TrimethylaminuriaRotting fish10TyrosinemiaBoiled cabbage, rancid butterPHENYLKETONURIA# impaired ability to convert phenylalanine to tyrosine fall into three broad groups:- Classic Phenylketonuria or Type I - Phenylalanemia -^Defect in phenylalanine hydroxylase- Phenylalanemia type II and III - defect in Dihydrobiopterin reductase- Type IV and V defect - in Dihydrobiopterin biosynthesis.# Catabolites phenyl acetate and others are excreted in urine and responsible for "Mousy odor"# C/F:- Mental retardation- Seizures- Psychoses- Eczema- Mousy odor# Diagnosis By:- Guthrie's test (Microbiological test, phenylalanine is necessary for growth of Bacillus subtilis)Q- 10% ferric chloride test: on fresh urine: Emerald green color Q.- Fluorometric assay- Dinitrophenylhydrazine: yellow ppt. with fresh or old urine.# T/t:- Diet restriction of phenylalanine but not completely- As it is necessary for normal growth and may be terminal by age 6 yrs.- MR can be prevented if diet restriction is initiated within few weeks after birth.MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETONURIA)# Absence of alpha-keto acid decarboxylase# Leads to defect in metabolism of Branched-chain amino acid--leucins, isoleucine and valine# "Maple syrup or Burnt sugar" odor of urine# FeC12 test gives Navy Blue colorISOVALERIC ACIDAEMIA:# Sweety foot syndrome# Deficiency of Isovaleryl CoA dehydrogenase.# C/F-- "Cheesy odor" of breath and body fluids.