FAZIO-LONDE SYNDROME

Question 1

What is  FAZIO-LONDE SYNDROME?

Accepted Answer

very rare

autosomal recessive

mutations in the SLC52A3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 211500

Question 3

Which enzymes are involved?

Accepted Answer

Solute carrier family 52, riboflavin transporter, member 3

Disease	FAZIO-LONDE SYNDROME
Synonym	BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
OMIM	211500 OMIM = Online Mendelian Inheritance of Men
Orphanet	56965
Protein (UniProt)	Solute carrier family 52, riboflavin transporter, member 3
Gene locus	20p13
ICD
Summary	very rare autosomal recessive mutations in the SLC52A3 gene
Laboratory findings	Dicarboxylic acids normal/inc (urine) Ethylmalonic acid normal/inc (urine) Glutaric acid normal/inc (urine)
Symptoms	hearing defect, deafness hyperreflexia muscle weakness onset, adolescent onset, childhood onset, infancy pontobulbar palsy ptosis (drooping eyelid) respiratory insufficiency swallowing difficulties