Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated

disorder

SNOMED 237953006CUI C1536500

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

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 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

Thrombocythaemia

Frequent (30-79%)HP:0001894

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

Edema

Occasional (5-29%)HP:0000969

Enlarged liver

Occasional (5-29%)HP:0002240

Extrapyramidal dyskinesia

Occasional (5-29%)HP:0007308

High blood pressure

Occasional (5-29%)HP:0000822

Related Conditions

Deficiency of acetoacetyl-CoA thiolase(parent)

Quick Facts

SNOMED CT: 237953006
UMLS CUI: C1536500
Fully Specified Name: Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (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.