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

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• cobalamin deficiency type C
  14 March 2011

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

• MELAS
  21 November 2003

  Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like symptoms, MELAS syndrome

• mucolipidosis type 2
  17 February 2006

  Inclusion-cell disease, I-cell disease, IC disease, mucolipidosis type II, Mucolipidosis II

• pulmonary Hurler disease
  14 March 2011

  Lung in Hurler disease; lung involvement in Hurler disease, Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS I. Includes: Hurler Syndrome (MPS I H), Hurler-Scheie Syndrome (MPS I H/S), Scheie Syndrome (MPS I S)
  Digital case
  Case 202 (HPC:202) : Lung in Hurler disease
  Synopsis
  interstitial pneumonia
  interstitial deposition of mucopolysaccharides
  cholesterol bronchiolitis
  See also
  Hurler disease
  References
  NCBI (...)

• encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria
  10 March 2010

  SUCLA2-associated mitochondrial DNA depletion syndrome; SUCLA2-associated MDDS

• GLUT1 deficiency
  9 June 2003

  Synopsis
  intractable seizures in infancy
  acquired microcephaly
  developmental delay
  low glucose sugar levels in the cerebrospinal fluid, but not in the blood
  dominant transmission¸
  Etiology
  mutation in the GLUT1 gene
  Patients with this syndrome can have heterozygous mutations, with one allele being a normal wild type and one being mutant.
  An efficient transport of glucose across the blood-brain barrier is essential as it is such an important fuel for the brain, and this is (...)

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