Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased activity of the pyruvate dehydrogenase complex
Always present (100%)HP:0002928
Dull intelligence
Always present (100%)HP:0001249
Increased blood lactate
Always present (100%)HP:0002151
Increased CSF lactic acid
Always present (100%)HP:0002490
Increased serum pyruvate
Always present (100%)HP:0003542
Lacticacidosis
Always present (100%)HP:0003128
Metabolic acidosis
Always present (100%)HP:0001942
Respiratory failure
Always present (100%)HP:0002878
Central hypotonia
Very frequent (80-99%)HP:0001252
Deformity of face
Very frequent (80-99%)HP:0001999
Dullness
Very frequent (80-99%)HP:0001254
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Growth failure
Very frequent (80-99%)HP:0001510
Ataxia
Frequent (30-79%)HP:0001251
Choreoathetoid movements
Frequent (30-79%)HP:0001266
Corticospinal signs
Frequent (30-79%)HP:0007256
Decreased size of cranium
Frequent (30-79%)HP:0000252
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Epilepsy
Frequent (30-79%)HP:0001250
Eye movement issue
Frequent (30-79%)HP:0000496
Gait disturbance
Frequent (30-79%)HP:0001288
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Jerking
Frequent (30-79%)HP:0001336
Osteolytic defects of the middle phalanx of the 4th toe
Frequent (30-79%)HP:0100453
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Tachypnea
Frequent (30-79%)HP:0002789
Tremor
Frequent (30-79%)HP:0001337
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Related Conditions
Pyruvate dehydrogenase complex E1 beta subunit deficiency(child)
Pyruvate dehydrogenase complex E2 subunit deficiency(child)
Pyruvate dehydrogenase complex E1-alpha subunit deficiency(child)
Pyruvate dehydrogenase phosphatase deficiency(child)
Inborn error of pyruvate metabolism(parent)
Lactic acidosis(parent)
Quick Facts
- SNOMED CT
- 46683007
- UMLS CUI
- C0034345
- Fully Specified Name
- Pyruvate dehydrogenase complex deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.