Overview
Fructose-biphosphatase 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.
Reduced hepatic fructose-1,6-bisphosphatase activity
Always present (100%)HP:0034995
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Lacticacidemia
Very frequent (80-99%)HP:0003128
Low blood sugar
Very frequent (80-99%)HP:0001943
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Diarrhea
Frequent (30-79%)HP:0002014
Hyperuricaemia
Frequent (30-79%)HP:0002149
Intermittent lactic acidemia
Frequent (30-79%)HP:0004913
Low blood sugar when fasting
Frequent (30-79%)HP:0003162
Vomiting
Frequent (30-79%)HP:0002013
Abnormal liver function
Occasional (5-29%)HP:0002910
Apneic episodes in infancy
Occasional (5-29%)HP:0005949
Difficulty breathing
Occasional (5-29%)HP:0002094
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Enlarged liver
Occasional (5-29%)HP:0002240
Episodic hyperventilation
Occasional (5-29%)HP:0004879
Episodic tachypnea
Occasional (5-29%)HP:0002876
Excessive daytime somnolence
Occasional (5-29%)HP:0001262
Fatty liver
Occasional (5-29%)HP:0001397
Hyperbilirubinemia, neonatal
Occasional (5-29%)HP:0003265
Hyperketosis
Occasional (5-29%)HP:0001946
Irritable mood
Occasional (5-29%)HP:0000737
Laboured breathing
Occasional (5-29%)HP:0002098
Lowered consciousness
Occasional (5-29%)HP:0004372
Mental deficiency
Occasional (5-29%)HP:0001249
Neonatal hypoglycemia
Occasional (5-29%)HP:0001998
Paleness
Occasional (5-29%)HP:0000980
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Racing heart
Occasional (5-29%)HP:0001649
Reye syndrome-like episodes
Occasional (5-29%)HP:0006582
Quick Facts
- SNOMED CT
- 28183005
- UMLS CUI
- C0016756
- Fully Specified Name
- Fructose-biphosphatase deficiency (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.