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Summary
2-HYDROXYGLUTARIC ACIDURIA (L)
2-HYDROXYGLUTARIC ACIDEMIA (L) L-2-HYDROXYGLUTARIC ACIDURIA L2HGA
236792
OMIM = Online Medalian Inheritance of Men
79314
14q21.3
  • anticonvulsants
  • L-carnitine
  • no specific treatment
  • riboflavin
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
symptoms
alopecia
ataxia
basal ganglia, changes, lesions, calcifications (MRI, CT)
behavior, autism or autistic-like
blindness, visual loss, visual impairment
cerebral neoplasm
dysarthria
dystonia
early death
extrapyramidal signs
hearing defect, deafness
hyperpigmentation
hypertonia, spasticity
hypotonia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
nystagmus
onset, infancy
onset, neonatal
optic atrophy
Organic acids, urine
pyramidal signs
seizures
speech development, delayed, abnormal
strabismus
tremor or twitching
white matter changes, abnormalities
laboratory finding
2-Hydroxyglutaric acid (L)50.004300.001.0019.00mmol/mol creatinineurine
L-Lysine70.00380.0052.00196.00-Ámol/lplasma
L-Lysine66.0089.0010.0025.00-Ámol/lcerebrospinal fluid
2-Hydroxyglutaric acid (L)7.0061.000.001.50-Ámol/lplasma
2-Hydroxyglutaric acid (L)23.00474.000.003.00-Ámol/lcerebrospinal fluid
CT, brain, abnormalities -
EEG abnormalities -
MRI, brain, abnormalities -
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
MRI, brain, white matter abnormalities -
2,4-Dihydroxyglutaric acid +€mol/lcerebrospinal fluid
Literature
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