Succinate-semialdehyde dehydrogenase deficiency

disorder

SNOMED 49748000CUI C0268631

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.

Mental and motor retardation

Always present (100%)HP:0001263

Ataxia

Very frequent (80-99%)HP:0001251

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Low intelligence

Very frequent (80-99%)HP:0001249

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Speech delay

Very frequent (80-99%)HP:0000750

Behavioural disorders

Frequent (30-79%)HP:0000708

Delayed motor milestones

Frequent (30-79%)HP:0001270

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hyporeflexia

Frequent (30-79%)HP:0001265

Prolonged seizure

Frequent (30-79%)HP:0002133

Seizures

Frequent (30-79%)HP:0001250

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Delayed CNS myelination

Occasional (5-29%)HP:0002188

Aggression

HP:0000718

Autism

HP:0000717

Autoagression

HP:0100716

Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts

HP:0032530

Electroencephalogram abnormal

HP:0002353

Elevated circulating 4-hydroxybutyric acid concentration

HP:6000991

Elevated circulating gamma-aminobutyric acid concentration

HP:0410053

Elevated CSF gamma-aminobutyric acid concentration

HP:0032531

Elevated CSF GHB levels

HP:0032532

Elevated urinary 3,4-Dihydroxybutyric acid level

HP:6000608

Elevated urinary 4-hydroxybutyric acid

HP:0032528

Excessive, persistent worry and fear

HP:0000739

Eye movement issue

HP:0000496

Generalized non-motor (absence) seizure

HP:0002121

Related Conditions

Disorder of beta and omega amino acid metabolism(parent)

Enzymopathy(parent)

Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 49748000
UMLS CUI: C0268631
Fully Specified Name: Succinate-semialdehyde 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.