Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Central hypotonia
Frequent (30-79%)HP:0001252
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Elevated urine suberic acid level
Frequent (30-79%)HP:0033213
Exercise-induced muscle fatigue
Frequent (30-79%)HP:0009020
Intermittent diarrhea
Frequent (30-79%)HP:0002254
Low blood sugar
Frequent (30-79%)HP:0001943
Muscle pain
Frequent (30-79%)HP:0003326
Proximal neurogenic muscle weakness
Frequent (30-79%)HP:0003701
3-methylglutaricaciduria
Occasional (5-29%)HP:0003344
Absent tendon reflexes
Occasional (5-29%)HP:0001284
Cardiac anomaly
Occasional (5-29%)HP:0001627
Chronic heart failure
Occasional (5-29%)HP:0001635
Concave bridge of nose
Occasional (5-29%)HP:0005280
Decreased plasma carnitine
Occasional (5-29%)HP:0003234
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty walking up stairs
Occasional (5-29%)HP:0003551
Dysplastic ears
Occasional (5-29%)HP:0000377
Elevated circulating acylcarnitine concentration
Occasional (5-29%)HP:0045045
Elevated serum transaminases
Occasional (5-29%)HP:0002910
Elevated urine 3-methyladipic acid level
Occasional (5-29%)HP:6000466
Enlarged liver
Occasional (5-29%)HP:0002240
Ethylmalonic aciduria
Occasional (5-29%)HP:0003219
Fatigable weakness of neck muscles
Occasional (5-29%)HP:0030199
Feeding difficulties
Occasional (5-29%)HP:0011968
Glutaricaciduria
Occasional (5-29%)HP:0003150
Hepatic periportal necrosis
Occasional (5-29%)HP:0002614
High blood ammonia levels
Occasional (5-29%)HP:0001987
High forehead
Occasional (5-29%)HP:0000348
Increased intercanthal distance
Occasional (5-29%)HP:0000506
Increased intramyocellular lipid droplets
Occasional (5-29%)HP:0012240
Related Conditions
Beta chain electron transfer flavoprotein deficiency(child)
Alpha chain electron transfer flavoprotein deficiency(child)
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency(child)
Disorder of fatty acid metabolism(parent)
Glutaric aciduria(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 22886006
- UMLS CUI
- C0268596
- Fully Specified Name
- Glutaric aciduria, type 2 (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.