| 2-HYDROXYGLUTARIC ACIDURIA (L) | |
| 2-HYDROXYGLUTARIC ACIDEMIA (L); L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA | |
|
236792
OMIM = Online Mendelian Inheritance of Men | |
|
79314 | |
| L-2-hydroxyglutarate dehydrogenase, mitochondrial | |
| 1.1.99.2 | |
| rare (<1:1000000) autosomal recessive mutation in the L2HGDH gene biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria | |
| Laboratory findings | 2-Hydroxyglutaric acid (L) inc (urine) 2-Hydroxyglutaric acid inc (urine) 2-Hydroxyglutaric acid (L) inc (cerebrospinal fluid) 2-Hydroxyglutaric acid (L) inc (plasma) L-Lysine normal/inc (cerebrospinal fluid) L-Lysine normal/inc (plasma) Protein, total inc (cerebrospinal fluid) |
| Symptoms | abnormalities (T) of the globus pallidus (MRI) ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) chorea or athetosis dysarthria dystonia extrapyramidal signs hearing defect, deafness hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder macrocephaly (large calvaria, >2 SD for age) mental retardation MRI, brain, abnormalities [-] nystagmus optic atrophy pyramidal signs seizures strabismus tremor or twitching white matter changes, abnormalities alopecia behavior, autism or autistic-like blindness, visual loss, visual impairment CT, brain, abnormalities [-] early death EEG abnormalities [-] epilepsy hyperpigmentation MRI, brain, white matter abnormalities [-] onset, infancy onset, neonatal Organic acids, urine psychomotor retardation speech development, delayed, abnormal |