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Paediatric

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Metabolic Diseases

Question
5 out of 9
 

A child has microcephaly, Blue eyes, Fair skin, and Mental retardation, Ferric chloride test is positive. What is the likely diagnosis (AIIMS May 2014)



A Phenylketonuria (PKU)
B Homocystinuria

C Tyrosinosis
D Alkaptonuria

Ans. A

Phenylketonurial

Clinical manifestations of phenylketonuria

a. Normal at birth

b. Symptoms occur after I months -

i. Mental retardation -+ Not present at birth, develops gradually.

ii. Neurological signs -+ Irritability, tremors, convulsions, hyperkinesis and muscular hypertonia & Exagerated reflex.

iii. Blond hair blue iris, fair skin.

iv. Musty or mousy body odour.

v. Vomiting

vi. Microcephaly

vii. Enamel hypoplasia & Growth retardation

Metabolic Diseases Flashcard List

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