Deficiency of alpha-ketoglutarate dehydrogenase

disorder

SNOMED 733630004CUI C2752074

Overview

Deficiency of alpha-ketoglutarate dehydrogenase 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.

Central hypotonia

Always present (100%)HP:0001252

Dystonic movements

Always present (100%)HP:0001332

Increased blood lactate

Always present (100%)HP:0002151

Abnormal urine alpha-ketoglutarate concentration

Very frequent (80-99%)HP:0012401

Abnormality of Krebs cycle metabolism

Very frequent (80-99%)HP:0000816

Ataxia

Very frequent (80-99%)HP:0001251

Decreased body height

Very frequent (80-99%)HP:0004322

Hypertonia

Very frequent (80-99%)HP:0001276

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Muscle degeneration

Very frequent (80-99%)HP:0003202

Abnormal finger chase test

Frequent (30-79%)HP:0001310

Abnormality of movement

Frequent (30-79%)HP:0100022

Delayed gross motor development

Frequent (30-79%)HP:0002194

Delayed motor milestones

Frequent (30-79%)HP:0001270

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Falls

Frequent (30-79%)HP:0002527

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Muscle atrophy, generalised

Frequent (30-79%)HP:0003700

Muscle rigidity

Frequent (30-79%)HP:0002063

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Salivary gland disease

Frequent (30-79%)HP:0010286

Speech and language difficulties

Frequent (30-79%)HP:0000750

Unsteady walk

Frequent (30-79%)HP:0002317

Congenital lactic acidosis

HP:0004902

Metabolic acidosis

HP:0001942

Related Conditions

Encephalomyeloneuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Deficiency of lyase(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 733630004
UMLS CUI: C2752074
Fully Specified Name: Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.