Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the pharynx
Very frequent (80-99%)HP:0000600
Cognitive delay
Very frequent (80-99%)HP:0001263
Elevated circulating branched chain amino acid concentration
Very frequent (80-99%)HP:0008344
Epilepsy
Very frequent (80-99%)HP:0001250
Mental deficiency
Very frequent (80-99%)HP:0001249
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Reduced tendon reflexes
Very frequent (80-99%)HP:0001315
Respiratory function loss
Very frequent (80-99%)HP:0002093
Voice abnormality
Very frequent (80-99%)HP:0001608
Ataxia
Frequent (30-79%)HP:0001251
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Related Conditions
Mild maple syrup urine disease(child)
Dihydrolipoamide dehydrogenase deficiency(child)
Thiamin-responsive maple syrup urine disease(child)
Classical maple syrup urine disease(child)
Maple syrup urine disease, multiple dehydrogenase form(child)
Intermediate maple syrup urine disease(child)
Intermittent maple syrup urine disease(child)
Enzymopathy(parent)
Recessive hereditary disorder (autosomal)(parent)
Disorder of branched-chain amino acid metabolism(parent)
Inborn error of metabolism(parent)
Quick Facts
- SNOMED CT
- 27718001
- UMLS CUI
- C0024776
- Fully Specified Name
- Maple syrup urine disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.