2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

disorder

SNOMED 801000124108CUI C3266731

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 circulating tiglylglycine concentration

Always present (100%)HP:0034290

Nonprogressive mental retardation

Always present (100%)HP:0001249

Abnormal urinary acylglycine profile

Very frequent (80-99%)HP:0012073

Worsening neurological symptoms

Very frequent (80-99%)HP:0002344

Delayed language development

Frequent (30-79%)HP:0000750

Elevated urinary 3-hydroxybutyric acid

Frequent (30-79%)HP:0040155

Mental and motor retardation

Frequent (30-79%)HP:0001263

Moderate mental retardation

Frequent (30-79%)HP:0002342

Progressive visual loss

Frequent (30-79%)HP:0000529

Psychomotor regression beginning in infancy

Frequent (30-79%)HP:0002376

Seizures

Frequent (30-79%)HP:0001250

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal social interactions

Occasional (5-29%)HP:0012433

ASD

Occasional (5-29%)HP:0000729

Ataxia

Occasional (5-29%)HP:0001251

Behavioral changes

Occasional (5-29%)HP:0000708

Choreoathetosis

Occasional (5-29%)HP:0001266

Chronic lactic acidosis

Occasional (5-29%)HP:0004925

Deafness

Occasional (5-29%)HP:0000365

Focal white matter lesions

Occasional (5-29%)HP:0007042

Frontotemporal cerebral atrophy

Occasional (5-29%)HP:0006892

Gait disturbance

Occasional (5-29%)HP:0001288

Hypotonia, early

Occasional (5-29%)HP:0008947

Involuntary jerking movements

Occasional (5-29%)HP:0001336

Poor attention span

Occasional (5-29%)HP:0000736

Decreased size of cranium

Very rare (1-4%)HP:0000252

Deglutition disorder

Very rare (1-4%)HP:0002015

Dilated cerebral ventricle

Very rare (1-4%)HP:0002119

Drooling

Very rare (1-4%)HP:0002307

GI dysmotility

Very rare (1-4%)HP:0002579

Related Conditions

Deficiency of dehydrogenase(parent)

Quick Facts

SNOMED CT: 801000124108
UMLS CUI: C3266731
Fully Specified Name: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (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.