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1.

Phenylketonuria

Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment. [from GeneReviews]

MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
2.

Reduced phenylalanine hydroxylase level

A reduction in phenylalanine 4-monooxygenase level. [from HPO]

MedGen UID:
892453
Concept ID:
C4025094
Finding

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