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1 OMIM reference -
1 associated gene
34 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Glutaryl-CoA dehydrogenase deficiency
Hyperlipidemia type 3

GCDH APOE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GCDH
(0.63)
APOE



Citations in the biomedical literature:


Glutaryl-CoA dehydrogenase deficiency
GCDH
Hyperlipidemia type 3
APOE



Glutaryl-CoA dehydrogenase deficiency
Hyperlipidemia type 3

Synonym(s):
- GA1
- GCDHD
- Glutaric acidemia type 1
- Glutaric aciduria type 1
- Glutaryl-coenzyme A dehydrogenase deficiency

Synonym(s):
- Broad-betalipoproteinemia
- Dyslipidemia type 3
- Familial dysbetalipoproteinemia
- Familial hyperlipoproteinemia type 3
- HLP type 3
- Hyperlipoproteinemia type 3
- Remnant disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
1 MeSH reference: C536833
External references:
No OMIM references
1 MeSH reference: D006952

Glutaryl-CoA dehydrogenase deficiency

Very frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms
- Encephalitis
- Hyperkinesia / dyskinesia
- Large fontanelle / delayed fontanelle closure
- Metabolic anomalies
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Extrapyramidal syndrome
- Facial dysmorphism
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Frontal bossing / prominent forehead
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Joint / articular deformation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Movement disorder
- Structural anomalies of the nervous system

Occasional
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Dizziness
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Malignant hyperthermia
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient cerebral ischemia / stroke


Hyperlipidemia type 3

(no data available)