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Summary
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
autosomal recessive
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
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
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
Literature
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