ERYTHROCYTE LACTATE TRANSPORTER DEFECT

Question 1

What is  ERYTHROCYTE LACTATE TRANSPORTER DEFECT?

Accepted Answer

very rare

autosomal dominant

mutation in the SLC16A1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 245340

Question 3

Which enzymes are involved?

Accepted Answer

Monocarboxylate transporter 1

Disease	ERYTHROCYTE LACTATE TRANSPORTER DEFECT
Synonym	LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
OMIM	245340 OMIM = Online Mendelian Inheritance of Men
Orphanet	171690
Protein (UniProt)	Monocarboxylate transporter 1
Gene locus	1p13.2
ICD
Summary	very rare autosomal dominant mutation in the SLC16A1 gene
Laboratory findings	Creatine kinase inc (serum)
Symptoms	exercise intolerance muscle cramps muscle fatigue muscle weakness onset, adolescent