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Pyruvate dehydrogenase phosphatase deficiency
disorderSNOMED 1003847003CUI C1837429
Overview
Pyruvate dehydrogenase phosphatase 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.
Feeding difficulties
Always present (100%)HP:0011968
Muscular hypotonia
Always present (100%)HP:0001252
Psychomotor development deficiency
Always present (100%)HP:0001263
Decreased activity of the pyruvate dehydrogenase complex
Very frequent (80-99%)HP:0002928
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Focal hyperintensity of cerebral white matter on MRI
Frequent (30-79%)HP:0040328
Hyperprolinemia
Frequent (30-79%)HP:0008358
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Increased blood lactate
Frequent (30-79%)HP:0002151
Increased serum alanine
Frequent (30-79%)HP:0003348
Increased urine lactate
Frequent (30-79%)HP:0003648
Lacticacidosis
Frequent (30-79%)HP:0003128
Psychomotor retardation, mild
Frequent (30-79%)HP:0011342
Truncal hypotonia
Frequent (30-79%)HP:0008936
Deglutition disorder
HP:0002015
Dull intelligence
HP:0001249
Generalised decreased muscle tone
HP:0001290
Inability to coordinate movements when walking
HP:0002066
Involuntary, rapid, rhythmic eye movements
HP:0000639
Seizures
HP:0001250
Related Conditions
Quick Facts
- SNOMED CT
- 1003847003
- UMLS CUI
- C1837429
- Fully Specified Name
- Pyruvate dehydrogenase phosphatase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.