Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased level of N-benzoylglycine in urine
Always present (100%)HP:0410066
Mental and motor retardation
Always present (100%)HP:0001263
Cerebellar haemorrhage
Occasional (5-29%)HP:0011695
Acute encephalopathy
HP:0006846
Apnea
HP:0002104
Appendicular hypertonia
HP:0002509
Cerebral atrophy
HP:0002059
Constipation
HP:0002019
Decreased body height
HP:0004322
Decreased haemoglobin
HP:0001903
Dehydration
HP:0001944
Disease of the heart muscle
HP:0001638
Dullness
HP:0001254
Dystonic movements
HP:0001332
Eczema
HP:0000964
Enlarged liver
HP:0002240
Feeding difficulties in infancy
HP:0008872
High blood ammonia levels
HP:0001987
Hyperglycinemia
HP:0002154
Hyperglycinuria
HP:0003108
Lacticacidosis
HP:0003128
Loss of appetite
HP:0004396
Low blood sugar
HP:0001943
Metabolic acidosis
HP:0001942
Neutropoenia
HP:0001875
Osteoporosis
HP:0000939
Pancreatitis
HP:0001733
Pancytopenia
HP:0001876
Propionyl-CoA carboxylase deficiency
HP:0003353
Seizures
HP:0001250
Related Conditions
Quick Facts
- SNOMED CT
- 124718009
- UMLS CUI
- C4551877
- Fully Specified Name
- Deficiency of propionyl-coenzyme A carboxylase (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.