Disease

Articles

• GRACILE syndrome
  27 October 2003

  Definition: GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
  Etiology
  mutation in BCS1L gene (2q33-37)

• X-linked adrenoleukodystrophy
  3 July 2003

  Clinical synopsis
  hyperpigmentation
  blindness
  cognitive hearing loss
  degenerative neurologic disorder
  spastic paraplegia
  peripheral neuropathy
  impotence
  sphincter disturbances
  limb and truncal ataxia
  slurred speech
  primary adrenal insufficiency
  hypogonadism
  onset usually in late childhood
  atrophy of pons and cerebellum on CT scan
  Pathological synopsis
  nervous system lesions
  adrenal lesions
  testicular lesions
  Laobratory
  elevated long chain (...)

• hypertriglyceridemia
  3 July 2003

  References
  Brunzell JD. Clinical practice. Hypertriglyceridemia. N Engl J Med. 2007 Sep 6;357(10):1009-17. PMID: #17804845#

• Niemann-Pick disease type C
  30 May 2003

  Niemann-Pick disease type C, NPC

• 3-hydroxyisobutyrate aciduria
  11 May 2005

  Autosomal recessive metabolic disease.
  Synopsis
  organic acidemia
  episodic ketoacidosis
  lacticacidemia
  failure to thrive
  dysmorphic facies
  microcephaly
  migrational brain disorder
  congenital intracerebral calcification
  Laboratory
  3-hydroxyisobutyric aciduria
  Low free carnitine
  High esterified carnitine
  3-hydroxyisobutyrate dehydrogenase deficiency

• type 1 diabetes
  25 September 2003

  type I diabetes

• cryptosporidiosis
  15 April 2005

  WKP
  Definition: Cryptosporidiosis is a parasitic disease caused by Cryptosporidium, a genus of protozoan parasites in the phylum Apicomplexa.
  It affects the distal small intestine and can affect the respiratory tract in both immunocompetent (i.e., individuals with a normal functioning immune system) and immunocompromised (e.g., persons with HIV/AIDS or autoimmune disorders) individuals, resulting in watery diarrhea with or without an unexplained cough.
  In immunocompromised individuals, (...)

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