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Phosphoenolpyruvate carboxykinase (GTP) deficiency
disorderSNOMED 5335002CUI C0268194
Overview
Phosphoenolpyruvate carboxykinase (GTP) deficiency 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.
Hypoglycemic episodes
Very frequent (80-99%)HP:0001988
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Elevated urine fumaric acid level
Frequent (30-79%)HP:0034648
High plasma glutamine
Frequent (30-79%)HP:0003217
Higher than normal levels of lactate in blood
Frequent (30-79%)HP:0002151
Hypoglycemic seizures
Frequent (30-79%)HP:0002173
Increased urine alpha-ketoglutarate concentration
Frequent (30-79%)HP:0012402
Increased urine lactate
Frequent (30-79%)HP:0003648
Lacticacidosis
Frequent (30-79%)HP:0003128
Acute encephalopathy
Occasional (5-29%)HP:0006846
Dullness
Occasional (5-29%)HP:0001254
Fatty liver
Occasional (5-29%)HP:0001397
Hepatopathy
Occasional (5-29%)HP:0001410
Hypoglycemic coma
Occasional (5-29%)HP:0001325
Muscular hypotonia
Occasional (5-29%)HP:0001252
Neonatal hypoglycemia
Occasional (5-29%)HP:0001998
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Sleepy
Occasional (5-29%)HP:0002329
Vomiting
Occasional (5-29%)HP:0002013
Decreased size of cranium
Very rare (1-4%)HP:0000252
High blood ammonia levels
Very rare (1-4%)HP:0001987
Quick Facts
- SNOMED CT
- 5335002
- UMLS CUI
- C0268194
- Fully Specified Name
- Phosphoenolpyruvate carboxykinase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.