3-Methylglutaconic aciduria type 1

disorder

SNOMED 237951008CUI C0342727

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.

Reduced tissue 3-methylglutaconyl-CoA hydratase activity

Always present (100%)HP:6000577

3-Methylglutaconic aciduria

Very frequent (80-99%)HP:0003535

Poor weight gain

Very frequent (80-99%)HP:0001508

Ataxia

Frequent (30-79%)HP:0001251

Cortical white matter abnormalities seen on MRI

Frequent (30-79%)HP:0002500

Delayed language development

Frequent (30-79%)HP:0000750

Mental and motor retardation

Frequent (30-79%)HP:0001263

Abnormality of the basal ganglia

Occasional (5-29%)HP:0002134

Athetoid movements

Occasional (5-29%)HP:0002305

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dystonic disease

Occasional (5-29%)HP:0001332

Enlarged liver

Occasional (5-29%)HP:0002240

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Low blood sugar

Occasional (5-29%)HP:0001943

Optic atrophy

Occasional (5-29%)HP:0000648

Progressive cerebellar ataxia

Occasional (5-29%)HP:0002073

Progressive dementia

Occasional (5-29%)HP:0000726

Seizures

Occasional (5-29%)HP:0001250

Self-mutilation

Occasional (5-29%)HP:0000742

Spastic tetraparesis

Occasional (5-29%)HP:0001285

Unconsciousness

Occasional (5-29%)HP:0001259

Cognitive deficits

HP:0100543

Difficulty articulating speech

HP:0001260

Febrile seizure (within the age range of 3 months to 6 years)

HP:0002373

Increased reflexes

HP:0001347

Leukoencephalopathy

HP:0002352

Metabolic acidosis

HP:0001942

No development of motor milestones

HP:0001270

Poor attention span

HP:0000736

Spastic quadriplegia

HP:0002510

Related Conditions

3-Methylglutaconic aciduria(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 237951008
UMLS CUI: C0342727
Fully Specified Name: 3-Methylglutaconic aciduria type 1 (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.