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Summary
FRIEDREICH ATAXIA
FRDA
229300
OMIM = Online Medalian Inheritance of Men
95
9q21.11
  • antoxidants
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:50.000)
autosomal recessive
symptoms
areflexia
ataxia
cardiomyopathy
cardiomyopathy, hypertrophic
defect of walking, running, rising or climbing
diabetes mellitus
dysarthria
hearing defect, deafness
hypertonia, spasticity
muscle weakness
nystagmus
onset, adolescent
onset, childhood
optic atrophy
peripheral neuropathy
skeletal changes, skeletal abnormalities
skoliosis, kyphoskoliosis
laboratory finding
ECG abnormalities -
Glucose tolerance, impaired serum
Pyruvate carboxylase decreased activityliver
Literature
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012
Francescato G,et al.A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workupBMJ Case Rep002012
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
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Thiel Cet al.Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgBiochem J3670195-2012002
Meimaridou E,et al.Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.Nat Genet447740-7422012
Torchinsky MY,Wineman R, Moll GWSevere Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the LiteratureInt J Pediatr002011
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