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Results 1 - 10 of 15 for Congenital metabolic disorder
  1. Amish lethal microcephaly 
    ... KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  2. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... National Organization for Rare Disorders (NORD) ... Herman GE. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 1; ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  3. Congenital leptin deficiency 
    Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, ...
    https://medlineplus.gov/.../condition/congenital-leptin-deficiency - Genetics
  4. Congenital generalized lipodystrophy 
    Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  5. Carbamoyl phosphate synthetase I deficiency 
    ... inborn errors of the urea cycle and related metabolic disorders during childhood. J Nutr. 2004 Jun;134(6 ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  6. Corticosterone methyloxidase deficiency 
    ... steroid 18-oxidase Aldosterone synthase deficiency CMO deficiency Congenital hypoaldosteronism Corticosterone 18-monooxygenase deficiency Corticosterone methyl oxidase ...
    https://medlineplus.gov/.../corticosterone-methyloxidase-deficiency - Genetics
  7. ATP6V0A2 gene 
    ... underlie ARCL2A, the condition is classified as a congenital disorder of glycosylation. More About This Health Condition ... autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  8. LEP gene 
    ... At least seven LEP gene mutations that cause congenital leptin deficiency have been identified. This disorder is ... hypogonadotropic hypogonadism). The LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. ...
    https://medlineplus.gov/genetics/gene/lep - Genetics
  9. PRKAG2 gene 
    ... very severe form of heart disease called lethal congenital glycogen storage disease of the heart. People with ... PRKAG2 PubMed GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2 ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  10. Lowe syndrome 
    ... thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can ... to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss ... if the mutated gene that causes the disorder is located on the X chromosome, one of ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
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