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Results: 6

1.

Mild non-PKU hyperphenylalanemia

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

Elliptocytosis 2

MedGen UID:
343643
Concept ID:
C1851741
Disease or Syndrome
3.

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
4.

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
5.

Retinitis pigmentosa 1

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
67395
Concept ID:
C0220701
Disease or Syndrome
6.

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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