Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-methylglutaricaciduria
Always present (100%)HP:0003344
Growth delay as children
Always present (100%)HP:0008897
Poor weight gain
Always present (100%)HP:0001508
3-Methylglutaconic aciduria
Very frequent (80-99%)HP:0003535
Ataxia
Very frequent (80-99%)HP:0001251
Cryptorchidism
Very frequent (80-99%)HP:0000028
Glutarate acidemia
Very frequent (80-99%)HP:0003530
Growth failure
Very frequent (80-99%)HP:0001510
Stretched and thinned heart muscle
Very frequent (80-99%)HP:0001644
Abnormal liver function
Frequent (30-79%)HP:0002910
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Delayed gross motor development
Frequent (30-79%)HP:0002194
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Hypochromic, microcytic anaemia
Frequent (30-79%)HP:0004840
Hypospadias
Frequent (30-79%)HP:0000047
Increased blood lactate
Frequent (30-79%)HP:0002151
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Long Q-T syndrome
Frequent (30-79%)HP:0001657
Mental retardation, mild
Frequent (30-79%)HP:0001256
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Normochromic microcytic anaemia
Frequent (30-79%)HP:0004856
Atria septal defect
Occasional (5-29%)HP:0001631
Cryptorchidism, bilateral
Occasional (5-29%)HP:0008689
Hypoplasia of penis
Occasional (5-29%)HP:0008736
Microvesicular steatosis
Occasional (5-29%)HP:0001414
Muscular ventricular septal defect
Occasional (5-29%)HP:0011623
Neonatal hypoglycemia
Occasional (5-29%)HP:0001998
Optic atrophy
Occasional (5-29%)HP:0000648
Perineal hypospadias
Occasional (5-29%)HP:0000051
Seizures
Occasional (5-29%)HP:0001250
Quick Facts
- SNOMED CT
- 711412004
- UMLS CUI
- C1857776
- Fully Specified Name
- 3-methylglutaconic aciduria type 5 (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.