BROWN-VIALETTO-VAN LAERE SYNDROME 2 (BVVLS2)

Question 1

What is  BROWN-VIALETTO-VAN LAERE SYNDROME 2 (BVVLS2)?

Accepted Answer

rare

autosomal recessive

mutation in the SLC52A2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614707

Question 3

Which enzymes are involved?

Accepted Answer

Solute carrier family 52, riboflavin transporter, member 2

Disease	BROWN-VIALETTO-VAN LAERE SYNDROME 2 (BVVLS2)
OMIM	614707 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Solute carrier family 52, riboflavin transporter, member 2
Gene locus	8q24.3
ICD
Summary	rare autosomal recessive mutation in the SLC52A2 gene
Laboratory findings	Acylcarnitine (C2) (serum)
Symptoms	abnormal movement anemia areflexia ataxia behavior, aggressive blindness, visual loss, visual impairment clumsiness, coordination defect or unsteadiness dysphagia early death gait disturbance hearing defect, deafness hypotonia megaloblastic anemia muscle weakness neuropathy nystagmus onset, childhood optic atrophy respiratory insufficiency skoliosis, kyphoskoliosis