Overview
Mitochondrial pyruvate carrier deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Encephalopathy
Occasional (5-29%)HP:0001298
Epilepsy
Occasional (5-29%)HP:0001250
Increased length of philtrum
Occasional (5-29%)HP:0000343
Laboured breathing
Occasional (5-29%)HP:0002098
Microcephaly, progressive
Occasional (5-29%)HP:0000253
Palpebronasal fold
Occasional (5-29%)HP:0000286
Peripheral neuropathy
Occasional (5-29%)HP:0009830
Rotary nystagmus
Occasional (5-29%)HP:0001583
Central hypotonia
HP:0001252
Enlarged liver
HP:0002240
Generalised decreased muscle tone
HP:0001290
Increased blood lactate
HP:0002151
Increased serum pyruvate
HP:0003542
Lacticacidemia
HP:0003128
Low blood sugar
HP:0001943
Mental and motor retardation
HP:0001263
Organic aciduria
HP:0001992
Quick Facts
- SNOMED CT
- 1217212009
- UMLS CUI
- C3553607
- Fully Specified Name
- Mitochondrial pyruvate carrier deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.