2-methylbutyryl-coenzyme A dehydrogenase deficiency disease

disorder

SNOMED 1306751004CUI C1864912

Overview

2-methylbutyryl-coenzyme A dehydrogenase deficiency disease 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.

Delayed motor milestones

Always present (100%)HP:0001270

Muscle atrophy, generalised

Always present (100%)HP:0003700

Elevated circulating C5 acylcarnitine concentration

Frequent (30-79%)HP:0035019

Elevated urinary 2-ethylhydracylic acid

Frequent (30-79%)HP:0033220

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Muscular hypotonia

Occasional (5-29%)HP:0001252

Seizures

Occasional (5-29%)HP:0001250

Autism

Very rare (1-4%)HP:0000717

Decreased size of cranium

Very rare (1-4%)HP:0000252

Speech difficulties

Very rare (1-4%)HP:0000750

Apneic episodes in infancy

HP:0005949

Hypothermia

HP:0002045

Languor

HP:0001254

Low blood sugar

HP:0001943

Mental and motor retardation

HP:0001263

Outward facing eye ball

HP:0000577

Related Conditions

Inborn error of amino acid metabolism(parent)

Disorder of isoleucine metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1306751004
UMLS CUI: C1864912
Fully Specified Name: 2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.