BROWN-VIALETTO-VAN LAERE SYNDROME 1 (BVVLS1)

Question 1

What is  BROWN-VIALETTO-VAN LAERE SYNDROME 1 (BVVLS1)?

Accepted Answer

rare
autosomal recessive
mutation in the C20ORF54 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Brown-Vialetto-van Laere-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 211530

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 52, riboflavin transporter, member 3

Disease	BROWN-VIALETTO-VAN LAERE SYNDROME 1 (BVVLS1)
OMIM	211530 OMIM = Online Mendelian Inheritance of Men
Orphanet	97229
Protein (UniProt)	Solute carrier family 52, riboflavin transporter, member 3
Gene locus	20p13
ICD	G12.1
Summary	rare autosomal recessive mutation in the C20ORF54 gene
Laboratory findings	Acylcarnitine (C2) n/i (plasma) Acylcarnitine (C2) n/i (dried blood spot (DB) Dicarboxylic acids normal/inc (urine) Ethylmalonic acid normal/inc (urine) Glutaric acid normal/inc (urine) L-Carnitine n/d (plasma) L-Carnitine n/d (dried blood spot (DB)
Symptoms	hearing defect, deafness dysphagia fasciculations hyperreflexia hypotonia muscle weakness neuropathy onset, childhood onset, infancy ophthalmoplegia peripheral neuropathy pontobulbar palsy progressive neurologic defect ptosis (drooping eyelid) respiratory insufficiency stridor