Metabolic disease

Articles

• Wilson disease
  30 May 2003

  Wilson’s disease

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• cobalamin deficiency type C
  14 March 2011

  cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)

• plasmalogens
  9 June 2003

  Definition: A plasmalogen is an ether lipid where the first position of glycerol binds a vinyl residue (from a vinyl alcohol) with the double bond next to the ether bond. The second carbon has a typical ester-linked fatty acid, and the third carbon usually has a phospholipid head group like choline or ethanolamine.
  In many tissues plasmalogens are minor constituents, but in heart tissue nearly 50% of phosphatidylcholine contains the alkenyl ether at carbon 1. Nervous tissues, testes and (...)

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• metachromatic leukodystrophies
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency

• MCAD deficiency
  20 April 2005

  medium-chain acyl-CoA dehydrogenase deficiency

• Menkes disease
  5 August 2008

  Definition: Menkes disease is a X-linked recessive disease of copper transportc aused by mutation in the gene encoding Cu(2+)-transporting ATPase, alpha polypeptide (ATP7A) (MIM.300011).
  Epidemiology
  Classic severe form shows onset at 2 to 3 months of age
  Early death (usually be 3 years of age)
  A milder form has also been reported
  Incidence ranges from 1 in 40,000 to 1 in 350,000 births
  Synopsis
  short stature
  intrauterine growth retardation (IUGR)
  microcephaly (...)

• renal cystinosis
  19 January 2006

  See also
  metabolic diseases genetic metabolic diseases cystinosis

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