Mousy odour urine is present in:
Ans:A.)Phenylketonuria Phenylketonuria Biochemical Defect : An autosomal recessive disorder caused by multiple loss-of-function mutations in phenylalanine hydroxylase or decreased tetrahydrobiopterin, a cofactor for the enzyme. Pathophysiology : Phenylalanine hydroxylase is responsible for conveing phenylalanine into tyrosine . When this enzyme is deficient, phenylalanine builds up. High levels of phenylalanine lead to severe brain damage by competitively inhibiting amino acid transpo required for protein synthesis, impairing polyribosome stabilization, reducing myelin production, and decreasing the formation of norepinephrine and serotonin. Phenylalanine is also a competitive inhibitor of tyrosinase, a key enzyme in the pathway of melanin synthesis, and thereby leads to hypopigmentation of the hair and skin. Clinical Manifestations : Mental and growth retardation ; microcephaly; decreased pigmentation (blonde and blue-eyed) ; eczema; "mousy" body odor; heavy perspiration; mousy urine odor; hypeonia,hyperreflexia. Lab findings: Phenylketones detected in urine (phenylacetate, phenyllactate, and phenyl-pyruvate); positive Guthrie test (measures phenylalanine in blood) at bih. Treatment Decreased intake of phenylalanine (avoid aspaame, which is found in Nutrasweet) and increased dietary tyrosine (essential amino acids for patients with this disorder).
Phenylketonuria
Maple syrup urine disease
Tyrosinemia
Homocystinuria