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Summary
FRIEDREICH ATAXIA
FRDA
229300
OMIM = Online Medalian Inheritance of Men
95
9q13, 9p23-p11
  • antoxidants
  • no specific treatment
  • supportive/symptomatic therapy
1:50000 autosomal recessive
symptoms
areflexia
ataxia
cardiomyopathy
defect of walking, running, rising or climbing
diabetes mellitus
dysarthria
hearing defect, deafness
kyphoskoliosis
muscle weakness
nystagmus
onset, adolescent
onset, child
optic atrophy
peripheral neuropathy
skeletal changes
laboratory finding
ECG abnormalities -
Glucose tolerance, impaired serum
Literature
Chantret Iet al.Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseJ Biol Chem2772825815-222002
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Thiel Cet al.Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgBiochem J3670195-2012002
Chantret Iet al.A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationJ Biol Chem278119962-99782003