Overview
D-Glyceric aciduria 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.
Appendicular spasticity
Always present (100%)HP:0034353
Arc de cercle
Always present (100%)HP:0002179
Elevated circulating D-glyceric acid concentration
Always present (100%)HP:6000371
Elevated CSF D-glyceric acid concentration
Always present (100%)HP:6000372
Encephalopathy
Always present (100%)HP:0001298
Peripheral hypotonia
Always present (100%)HP:0001252
Reduced hepatic D-glycerate kinase activity
Always present (100%)HP:0034706
Retarded growth
Always present (100%)HP:0001510
Spastic quadriplegia
Always present (100%)HP:0002510
Truncal hypotonia
Always present (100%)HP:0008936
Undergrowth
Always present (100%)HP:0001508
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Progressive encephalopathy
Very frequent (80-99%)HP:0002448
Bradycardia
Frequent (30-79%)HP:0001662
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep set eye
Frequent (30-79%)HP:0000490
Delayed CNS myelination
Frequent (30-79%)HP:0002188
Delayed language development
Frequent (30-79%)HP:0000750
Double ring sign
Frequent (30-79%)HP:0000609
Focal clonic seizure
Frequent (30-79%)HP:0002266
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
High glycine levels in cerebrospinal fluid
Frequent (30-79%)HP:0500230
High urine glycine levels
Frequent (30-79%)HP:0003108
Hyperglycinemia
Frequent (30-79%)HP:0002154
Hypotonia, early
Frequent (30-79%)HP:0008947
Related Conditions
Quick Facts
- SNOMED CT
- 237980004
- UMLS CUI
- C0342765
- Fully Specified Name
- D-Glyceric aciduria (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.