Overview
Deficiency of pyruvic decarboxylase 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 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
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Growth deficiency
Very frequent (80-99%)HP:0001510
Inactivity
Very frequent (80-99%)HP:0001254
Malformation of face
Very frequent (80-99%)HP:0001999
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Ataxia
Frequent (30-79%)HP:0001251
Choreoathetosis
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
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 jerking movements
Frequent (30-79%)HP:0001336
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Osteolytic defects of the middle phalanx of the 4th toe
Frequent (30-79%)HP:0100453
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Seizures
Frequent (30-79%)HP:0001250
Tachypnea
Frequent (30-79%)HP:0002789
Tremor
Frequent (30-79%)HP:0001337
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Related Conditions
Quick Facts
- SNOMED CT
- 124593001
- UMLS CUI
- C0034345
- Fully Specified Name
- Deficiency of pyruvate decarboxylase (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.