Visit Metagene.de!
Summary
EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (RREI)
616839
OMIM = Online Medalian Inheritance of Men
---
8q22.3
very rare
autosomal recessive
mutation in the SLC25A32 gene
symptoms
dysarthria
exercise intolerance
onset, childhood
swallowing difficulties
laboratory finding
2-Methylbutyrylglycine mmol/mol creatinineurine
Hexanoylglycine mmol/mol creatinineurine
Isobutyrylglycine mmol/mol Creaurine
Isovaleroylglycine mmol/mol Creaurine
Ethylmalonic acid mmol/mol Creaurine
Adipic acid mmol/mol Creaurine
Sebacic acid mmol/mol Creaurine
Literature
Gennero I,Conte-Auriol F, Salles JPLaboratory diagnosis of hypophosphatasiaArch Pediatr242525S57-5S602017
Srivastava AProgressive familial intrahepatic cholestasisJ Clin Exp Hepatol4125-362014