EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (RREI)

Question 1

What is  EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (RREI)?

Accepted Answer

very rare

autosomal recessive

mutation in the SLC25A32 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616839

Question 3

Which enzymes are involved?

Accepted Answer

Mitochondrial folate transporter/carrier

Disease	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (RREI)
OMIM	616839 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Mitochondrial folate transporter/carrier
Gene locus	8q22.3
ICD
Summary	very rare autosomal recessive mutation in the SLC25A32 gene
Laboratory findings	2-Methylbutyrylglycine inc (urine) Adipic acid normal/inc (urine) Ethylmalonic acid inc (urine) Hexanoylglycine inc (urine) Isobutyrylglycine inc (urine) Isovaleroylglycine inc (urine) Sebacic acid inc (urine)
Symptoms	dysarthria exercise intolerance onset, childhood swallowing difficulties