Metabolic disease

Articles

• 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

• 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

• PDSS2
  6 December 2007

  decaprenyl diphosphate synthase subunit 2 (PDSS2)

• xanthinuria type 1
  18 March 2005

  Autosomal recessive metabolic disease.
  Synopsis
  xanthine stones hydronephrosis pyelonephritis
  myopathy
  Biology
  xanthinuria
  low serum and urine uric acid
  isolated deficiency of xanthine dehydrogenase
  crystalline deposits in skeletal muscle
  See also
  xanthinuria type 2
  Etiology
  type I xanthinuria is caused by mutations in the gene XDH encoding xanthine dehydrogenase (...)

• metachromatic leukodystrophies
  4 June 2006

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

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• peroxisomal acyl-CoA-oxidase deficiency
  26 May 2009

  References
  Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. PMID: #18536048#

• beta-mannosidosis
  29 July 2008

  Definition: Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. Most patients have mental retardation.
  Synopsis
  mild facial dysmorphism may occur
  deafness
  tortuosity of conjunctival vessels
  tortuosity of conjunctival vessels
  angiokeratoma
  cytoplasmic vacuolization
  thenar amyotrophy (rare)
  mental retardation
  speech impairment (...)

• exercise-induced hypoglycemia
  22 October 2007

  Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.
  See also
  beta -cell regulation
  Etiology
  promoter-activating mutations in SLC16A1 (monocarboxylate transporter 1)
  increasing expression of SLC16A1 in beta cells
  permitting pyruvate uptake and pyruvate-stimulated insulin release despite ensuing hypoglycemia
  The SLC16A1 gene encodes the (...)

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