Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary 2-methyl-3-hydroxybutyric acid level
Always present (100%)HP:6000603
Abnormality of mental function
Very frequent (80-99%)HP:0011446
Acidosis
Very frequent (80-99%)HP:0001941
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Ketonaciduria
Very frequent (80-99%)HP:0002919
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Pyrexia
Very frequent (80-99%)HP:0001945
Tachypnea
Very frequent (80-99%)HP:0002789
Vomiting
Very frequent (80-99%)HP:0002013
Coughing
Frequent (30-79%)HP:0012735
Dehydration
Frequent (30-79%)HP:0001944
Diarrhea
Frequent (30-79%)HP:0002014
Excessive daytime somnolence
Frequent (30-79%)HP:0001262
High blood ammonia levels
Frequent (30-79%)HP:0001987
Increased platelet count
Frequent (30-79%)HP:0001894
Increased total leukocyte count
Frequent (30-79%)HP:0001974
Ketoacidosis
Frequent (30-79%)HP:0001993
Lack of feeling, emotion, interest
Frequent (30-79%)HP:0000741
Lowered consciousness
Frequent (30-79%)HP:0004372
Trance
Frequent (30-79%)HP:0001259
Abnormal metabolic brain imaging by MRS
Occasional (5-29%)HP:0012705
Agitation
Occasional (5-29%)HP:0000713
Anorexia
Occasional (5-29%)HP:0002039
Ataxia
Occasional (5-29%)HP:0001251
Bromidrosis
Occasional (5-29%)HP:0500001
Delayed motor milestones
Occasional (5-29%)HP:0001270
Enlarged liver
Occasional (5-29%)HP:0002240
Extrapyramidal dyskinesia
Occasional (5-29%)HP:0007308
High blood pressure
Occasional (5-29%)HP:0000822
Hyperglycemia
Occasional (5-29%)HP:0003074
Related Conditions
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated(child)
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated(child)
Cytosolic acetoacetyl-CoA thiolase deficiency(child)
Deficiency of transferase(parent)
Disorder of branched-chain amino acid metabolism(parent)
Quick Facts
- SNOMED CT
- 124258007
- UMLS CUI
- C1536500
- Fully Specified Name
- Deficiency of acetyl-coenzyme A acetyltransferase (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.