Metabolic disease

Articles

• cerebrotendinous xanthomatosis
  28 February 2006

  CTX

• Sandhoff disease
  4 June 2006

  Definition: Sandhoff disease, also called Hexosaminidase A and B deficiency, is an autosomal recessive lipid storage disease that causes progressive destruction of nerve cells in the brain and spinal cord.
  Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides (GM2-gangliosidosis), particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (MIM.272800).
  Sandhoff disease is caused by mutation in the alpha (...)

• lysinuric protein intolerance
  25 January 2006

  LPI, lysinuric dibasic protein intolerance

• glycogen storage disease type 2
  29 May 2007

  GSD2, Pompe disease, type II glycogenosis, glycogenosis type 2

• d-2-hydroxyglutaric aciduria
  18 January 2005

  d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology.
  Etiology
  germline mutations in the d-2-hydroxyglutarate dehydrogenase gene

• lethal neonatal CPT deficiency type 2
  17 March 2005

  Autosomal recessive metabolic disease.
  Synopsis
  craniofacial anomalies
  Microcephaly
  High, sloping forehead
  Prominent forehead
  Cararacts
  Overfolded helices
  Low-set ears
  Posteriorly-rotated ears
  Bulbous nose
  High-arched palate
  Narrow palate
  cardiovascular anomalies
  Cardiomegaly
  Dilated cardiomyopathy
  Thickened myocardium
  Arrhythmias
  Sudden death within first days of life
  Lipid accumulation in heart
  Respiratory distress
  Apnea
  Respiratory failure (...)

• glycogen storage disease type 3
  9 February 2006

  glycogenosis type 3, glycogen storage disease type III, Forbes disease, limit dextrinosis, GSD type 3, Cori disease, Cori’s disease

• cblC type of combined methylmalonic aciduria and homocystinuria
  2 February 2006

  cobalamine deficiency type C; cblC type cobalamine deficiency

• multiple acyl-CoA dehydrogenation deficiency
  18 March 2005

  MADD, glutaric aciduria type 2

• arylsulfatase deficiency type metachromatic leokodystrophy
  29 November 2007

  Deficiency: Arylsulfatase deficiency is one three allelic types of metachromatic deficiencies.
  Clinical synopsis
  urinary incontinence
  mental deterioration
  loss of speech
  hypotonia
  muscle weakness
  hait disturbances
  hyporeflexia (early)
  dysarthria
  dystonia
  chorea
  ataxia
  spastic tetraplegia
  hyperreflexia (later)
  extensor plantar responses (later)
  seizures
  bulbar palsies
  progression to tetraplegia and decerebrate state
  cerebral white matter abnormalities (...)

0 | ... | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | ... | 110