Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased level of N-benzoylglycine in urine
Always present (100%)HP:0410066
Constipation
Very frequent (80-99%)HP:0002019
High blood ammonia levels
Very frequent (80-99%)HP:0001987
Low blood sugar
Very frequent (80-99%)HP:0001943
Organic aciduria
Very frequent (80-99%)HP:0001992
Propionyl-CoA carboxylase deficiency
Very frequent (80-99%)HP:0003353
Abnormal heart rate
Frequent (30-79%)HP:0011675
Abnormality of immune system physiology
Frequent (30-79%)HP:0010978
Enlarged liver
Frequent (30-79%)HP:0002240
Mental and motor retardation
Frequent (30-79%)HP:0001263
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Cerebellar haemorrhage
Occasional (5-29%)HP:0011695
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Acute encephalopathy
HP:0006846
Apnea
HP:0002104
Appendicular hypertonia
HP:0002509
Decreased body height
HP:0004322
Degeneration of cerebrum
HP:0002059
Dehydration
HP:0001944
Dystonic movements
HP:0001332
Eczema
HP:0000964
Feeding difficulties in infancy
HP:0008872
High urine glycine levels
HP:0003108
Hyperglycinemia
HP:0002154
Lacticacidemia
HP:0003128
Languor
HP:0001254
Low number of red blood cells or hemoglobin
HP:0001903
Low platelet count
HP:0001873
Metabolic acidosis
HP:0001942
Neutropoenia
HP:0001875
Related Conditions
Propionyl-CoA carboxylase deficiency pccA complementation group(child)
Propionyl-CoA carboxylase deficiency pccBC complementation group(child)
Propionic acidaemia, type I(child)
Propionic acidaemia, type II(child)
Acidemia(parent)
Disorder of propionate AND/OR methylmalonate metabolism(parent)
Non-amino organic acidemia AND/OR aciduria(parent)
Disorder of branched-chain amino acid metabolism(parent)
Recessive hereditary disorder (autosomal)(parent)
Enzymopathy(parent)
Inborn error of metabolism(parent)
Quick Facts
- SNOMED CT
- 69080001
- UMLS CUI
- C0268579
- Fully Specified Name
- Propionic acidemia (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.