Familial Isolated Vitamin E Deficiency

From Anvita Health Wiki

Contents 1 Pathology 2 Genetics 3 Clinical-manifestations 4 Laboratory 5 More General Terms 6 Internet Database 7 References

Pathology

• spinocerebellar degeneration

Genetics

• associated with defects in TTPA

Clinical-manifestations

• ataxia
• peripheral neuropathy
• resembles Friedreich ataxia

Laboratory

• markedly reduced plasma vitamin E

More General Terms

• genetic disease of the central nervous system
• metabolic disease

Internet Database

OMIM: 277460
OMIM: 600415

References

UniProt [1]

familial isolated vitamin E deficiency (ataxia, Friedreich-like, with selective vitamin E deficiency)