Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blue discoloration of the skin
Always present (100%)HP:0000961
Central hypotonia
Always present (100%)HP:0001252
Convergent squint
Always present (100%)HP:0020045
Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity
Always present (100%)HP:6000133
Dystonic disease
Always present (100%)HP:0001332
High leucine levels in cerebrospinal fluid
Always present (100%)HP:0500191
High levels of isoleucine in cerebrospinal fluid
Always present (100%)HP:0500193
Hypertonia
Always present (100%)HP:0001276
Increased CSF valine concentration
Always present (100%)HP:0500187
Increased serum pyruvate
Always present (100%)HP:0003542
Ketoacidosis
Always present (100%)HP:0001993
Methemoglobinemia
Always present (100%)HP:0012119
Subclinical abnormal liver function tests
Always present (100%)HP:0002910
Tremor
Always present (100%)HP:0001337
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Enlarged liver
Occasional (5-29%)HP:0002240
Hepatopathy
Occasional (5-29%)HP:0001410
Arc de cercle
HP:0002179
Ataxia
HP:0001251
Cardiomyopathy, hypertrophic
HP:0001639
Decreased size of cranium
HP:0000252
Encephalopathy
HP:0001298
Exertional dyspnea
HP:0002875
Feeding difficulties
HP:0011968
Headache
HP:0002315
Inactivity
HP:0001254
Increased red blood cells
HP:0001901
Lacticacidosis
HP:0003128
Low blood sugar
HP:0001943
Metabolic acidosis
HP:0001942
Quick Facts
- SNOMED CT
- 29914000
- UMLS CUI
- C5574660
- Fully Specified Name
- Dihydrolipoamide dehydrogenase 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.