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Summary
VITAMIN E DEFICIENCY (AVED)
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF
277460
OMIM = Online Medalian Inheritance of Men
96
8q12.3
  • vitamin E (alpha-tocopherol)
rare
autosomal recessive
there is evidence that this disorder results from mutation in the gene for alpha-tocopherol transfer protein (MIM 600415). familial vitamin E deficiency resembles Friedreichs ataxia vitamin E deficiency results also from lipid malabsorption syndromes, liver dysfunction, cholestasis, biliary atresia, pancreatic insufficiency, cystic fibrosis, abetalipoproteinemia
symptoms
areflexia
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
defect of deep tendon reflexes
dysarthria
dystonia
nystagmus
onset, childhood
retinopathy
tremor or twitching
xanthoma
laboratory finding
Vitamin E 7.0021.00decreasedplasma
MRI, brain, abnormalities -
Cholesterol increasedserum
Triglycerides increasedserum
Literature
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Bhala AWilli SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DEClinical and biochemical characterisation of short-chain acyl-coenzyme A dehydrogenase deficiencyJ Pediatr1266910-9151995
Sewell ACBender SW, Wirth S, M+€nsterfering H, Ijlist L, Wanders RJALong-chain 3-hydroxyacyl-CoA dehydrogenase deficienc: a severe fatty acid oxidation disorgerEur J Pediatr1530745-7501994
Ledley FDet al.Benign methylmalonic aciduriaN Engl J Med31101015-10181984
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Munnich Aet al.Clinical presentations and laboratory invetstigations in respiratory chain deficiencyEur J Pediatr1550262-2741996
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Katayama K,et al.Searching for a treatment for Alport syndrome using mouse modelsWorld J Nephrol34230-2362014
Jaeken JCarchon HThe carbohydrate-deficient glycoprotein syndromes: an overviewJ Inherit Metab Dis160813-8201993
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Matalon RMichaelis K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thornburn DMalonic aciduria and cardiomyopathyJ Inherit Metab Dis160571-5731993
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993