Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormality of folate metabolism
Very frequent (80-99%)HP:0012335
Abnormality of histidine metabolism
Very frequent (80-99%)HP:0010904
Abnormal concentration of acylcarnitine in the urine
Frequent (30-79%)HP:0500170
Increased blood folate concentration
Frequent (30-79%)HP:0032164
Decreased haemoglobin
Occasional (5-29%)HP:0001903
Global developmental delay, mild
Occasional (5-29%)HP:0011342
Megaloblastic anemia
Occasional (5-29%)HP:0001889
Mental retardation, severe
Occasional (5-29%)HP:0010864
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Speech and language difficulties
Occasional (5-29%)HP:0000750
Atria septal defect
Very rare (1-4%)HP:0001631
Autism
Very rare (1-4%)HP:0000717
Abnormal urinary amino-acid findings
HP:0003355
Formiminoglutamic acid high in urine
HP:0034742
Growth deficiency
HP:0001510
Hypersegmentation of neutrophil nuclei
HP:0004821
Mental deficiency
HP:0001249
Positive FeCl3 test
HP:0003612
Quick Facts
- SNOMED CT
- 59761008
- UMLS CUI
- C0268609
- Fully Specified Name
- Glutamate formiminotransferase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.