Overview
Deficiency of glycerol kinase 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.
Higher than normal levels of lactate in blood
Always present (100%)HP:0002151
Hyperglycerolemia
Always present (100%)HP:0040302
Hypoadrenalism
Always present (100%)HP:0000846
Increased urinary glycerol
Always present (100%)HP:0040301
Metabolic acidosis
Always present (100%)HP:0001942
Muscle pain
Always present (100%)HP:0003326
Nausea
Always present (100%)HP:0002018
Reduced glycerol kinase activity in cultured fibroblasts
Always present (100%)HP:4000211
Vomiting
Always present (100%)HP:0002013
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental-retardation
Frequent (30-79%)HP:0001249
Chronic pancreas inflammation
Occasional (5-29%)HP:0006280
Cryptorchidism
Occasional (5-29%)HP:0000028
Seizures
Occasional (5-29%)HP:0001250
Birth weight less than 10th percentile
HP:0001518
Decreased body height
HP:0004322
Downturned corners of mouth
HP:0002714
Dullness
HP:0001254
Episodic vomiting
HP:0002572
Frontal protuberance
HP:0002007
Growth deficiency
HP:0001510
Increased distance between eyes
HP:0000316
Increased triglycerides
HP:0002155
Ketoacidosis
HP:0001993
Loss of consciousness
HP:0007185
Low blood sugar
HP:0001943
Low-set ears
HP:0000369
Muscular dystrophy
HP:0003560
Myopathy
HP:0003198
Osteoporosis
HP:0000939
Quick Facts
- SNOMED CT
- 124322002
- UMLS CUI
- C0268418
- Fully Specified Name
- Deficiency of glycerol kinase (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.