Metabolic disease

Articles

• CDG1M
  7 November 2007

  Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation.
  Pathology
  congenital disorder of glycosylation type Im (CDG1M), or dolichol kinase deficiency, is caused by mutation in the TMEM15 gene (MIM. 610746), which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate. (#17273964#) DK1 is responsible for the final step of the (...)

• 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 (...)

• fucosidosis
  29 July 2008

  Definition: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues.
  Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal (...)

• mucopolysaccharidosis type 4B
  16 June 2008

  Morquio syndrome type B, MPS IVB, MPS4B

• argininemia
  25 September 2008

  Definition: Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.
  Etiology
  argininemia is caused by mutation in the gene encoding liver arginase (ARG1) (MIM.608313).
  Nota bene`: Urea cycle diseases are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the (...)

• multiple sulfatase deficiency
  26 November 2007

  MSD, mucosulfatidosis, juvenile sulfatidosis Austin type

• propionic acidemia
  31 July 2008

  propionyl-CoA carboxylase deficiency

• galactosialidosis
  29 July 2008

  neuarminidase deficiency with beta-galactosidase deficiency, Goldberg syndrome

• 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 (...)

• Kearns-Sayre syndrome
  31 October 2006

  ("ophthalmoplegia plus")
  Definition: Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and cardiac conduction defects.
  KKS is a sporadic disorder, associated with a large mtDNA deletion/rearrangement. The disorder may present with cerebellar ataxia in addition to the progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. (...)

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