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Results: 4

1.

Mild non-PKU hyperphenylalanemia

MedGen UID:
394818
Concept ID:
C2678416
Disease or Syndrome
2.

Phenylketonuria

A genetic disorder in which the body lacks the enzyme necessary to metabolize protein [from CHV]

MedGen UID:
199655
Concept ID:
C0751434
Disease or Syndrome
3.

Maternal phenylketonuria

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95) [from MeSH]

MedGen UID:
88435
Concept ID:
C0085547
Disease or Syndrome
4.

Phenylketonuria

Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders including phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA), and variant PKU. Classic PKU is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity; without dietary restriction of phenylalanine, most children with PKU develop profound and irreversible intellectual disability. Non-PKU HPA is associated with a much lower risk of impaired cognitive development in the absence of treatment. [from GeneReviews]

MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome

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