Metabolic myopathy due to lactate transporter defect

General Information (adopted from Orphanet):

Synonyms, Signs: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
Erythrocyte lactate transporter defect
Number of Symptoms 9
OrphanetNr: 171690
OMIM Id: 245340
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Metabolic myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0009020) Exercise-induced muscle fatigue 4 / 7739
3
(HPO:0008967) Exercise-induced muscle stiffness 6 / 7739
4
(HPO:0003710) Exercise-induced muscle cramps 11 / 7739
5
(OMIM) Normal EMG 2 / 7739
6
(MedDRA:10004804) Biopsy muscle normal 3 / 7739
7
(OMIM) Decreased lactate clearance from muscle after exercise (reported in 1 patient) 1 / 7739
8
(OMIM) Symptoms may be induced by heat 1 / 7739
9
(OMIM) Decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fishbein (1986) described the case of a 26-year-old military drill instructor in 'superb physical condition' who had experienced 3 brief episodes of severe, diffuse anterior chest pain after exercise during the previous 5 years. The chest pain was ...
Molecular genetics OMIM In a patient with erythrocyte lactate transporter defect originally reported by Fishbein (1986), Merezhinskaya et al. (2000) identified a heterozygous mutation in the SLC16A1 gene (600682.0001). Two additional patients were found to be heterozygous for another SLC16A1 mutation ...