Overview
Malonic aciduria 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.
Delayed language development
Very frequent (80-99%)HP:0000750
Dull intelligence
Very frequent (80-99%)HP:0001249
Dystonic movements
Very frequent (80-99%)HP:0001332
Malonic acid present in urine
Very frequent (80-99%)HP:0034657
Methymalonicaciduria
Very frequent (80-99%)HP:0012120
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased size of cranium
Frequent (30-79%)HP:0000252
Disease of the heart muscle
Frequent (30-79%)HP:0001638
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties
Frequent (30-79%)HP:0011968
Low blood sugar
Frequent (30-79%)HP:0001943
Metabolic acidosis
Frequent (30-79%)HP:0001942
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts
Frequent (30-79%)HP:6000355
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Very poor growth
Frequent (30-79%)HP:0001510
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Delayed CNS myelination
Occasional (5-29%)HP:0002188
Diarrhea
Occasional (5-29%)HP:0002014
Dullness
Occasional (5-29%)HP:0001254
Hyperketosis
Occasional (5-29%)HP:0001946
Left ventricular non-compaction cardiomyopathy
Occasional (5-29%)HP:0011664
Muscular hypotonia
Occasional (5-29%)HP:0001252
Vomiting
Occasional (5-29%)HP:0002013
Chronic constipation
HP:0012450
Constipation
HP:0002019
Decreased body height
HP:0004322
Elevated urine suberic acid level
HP:0033213
Generalised decreased muscle tone
HP:0001290
Quick Facts
- SNOMED CT
- 361203007
- UMLS CUI
- C0342793
- Fully Specified Name
- Malonic aciduria (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.