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Items: 4

1.

Mild non-PKU hyperphenylalanemia

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

Phenylalanine hydroxylase deficiency

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

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. 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 1200 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
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