Devinder Mohan Thappa

All articles by Devinder Mohan Thappa

Phenylketonuria (Hyperphenylalaninemia type I, Folling’s disease, Phenylpyruvic oligophrenia)

Are You Confident of the Diagnosis? What you should be alert for in the history Be alert for progressive mental deterioration, behavior disorders, hyperactivity, seizures, and skin changes. Characteristic findings on physical examination Characteristic findings include an IQ of 20-50, mousy body odor (phenylacetic acid in sweat), and microcephaly. Height and weight at average at…

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