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Title
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Phenylketonuria (PKU)
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ImagePath
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System
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Amino acid metabolism disorder
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Overview
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Autosomal‑recessive deficiency of phenylalanine hydroxylase or BH4 cofactor → inability to convert Phe to Tyr → accumulation of phenyl‑ketones.
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Pathophysiology
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Accumulated phenylalanine is neurotoxic; deficiency of tyrosine leads to catecholamine and melanin shortage.
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Presentation
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Normal at birth → by few months: intellectual disability, seizures, eczema, ‘musty/mousy’ body odor, hypopigmented skin, hair & iris.
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Diagnosis
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Newborn screen: ↑ phenylalanine. Confirm with quantitative plasma amino‑acid analysis.
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Management
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Life‑long low‑phenylalanine diet (avoid aspartame) + tyrosine supplementation; sapropterin for BH4‑responsive type.
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Epidemiology
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Tags
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