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Paediatric

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Metabolic Diseases

Question
9 out of 9
 

Darkening of urine on standing is associated with (LQ)



A Alkaptonuria
B Cystinuria

C Fabry's diseas
D Tyrosinemia

Ans. A

Alkaptonuria

a. It is an autosomal recessiye disorder.

b. It is due to deficiency of enryme homogentisic oxidase.

c. Large amount of homogentisic acid is accumulated in body and excreted in urine.

d. Clinical manifestations

e. Clinical features consist of -

i. Ochronosis -J Dark spot on the sclera or ear cartilage.

ii. tuthdtis -+ Spine, hip, knee.

f. But both these occur in adulthood.

g. The only sign of disease in children is a blackening of urine on standing. This is caused by oxidation and polymerization of homogentisic acid.

h. High incidences of heart disease (mitral and aortic vahulitis, calcification of heart valves, MI) have been noted.

Metabolic Diseases Flashcard List

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