VITAMIN E DEFICIENCY (AVED)

Question 1

What is  VITAMIN E DEFICIENCY (AVED)?

Accepted Answer

rare
autosomal recessive
mutation in the TTPA gene
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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Friedreich-ähnliche Ataxie mit Vitamin E-Mangel; Ataxie mit Vitamin E-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 277460

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-tocopherol transfer protein

Disease	VITAMIN E DEFICIENCY (AVED)
Synonym	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF
OMIM	277460 OMIM = Online Mendelian Inheritance of Men
Orphanet	96
Protein (UniProt)	Alpha-tocopherol transfer protein
Gene locus	8q12.3
ICD	G11.1
Summary	rare autosomal recessive mutation in the TTPA gene 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
Laboratory findings	Cholesterol inc (serum) Triglycerides inc (serum) Vitamin E dec (plasma)
Symptoms	areflexia ataxia blindness, visual loss, visual impairment cardiomyopathy defect of deep tendon reflexes dysarthria dystonia MRI, brain, abnormalities [-] nystagmus onset, childhood retinopathy tremor or twitching xanthoma