2-Hydroxyglutaric acid (L) [+]

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Associated Diseases	Laboratory Findings	Clinical Symptoms
2-HYDROXYGLUTARIC ACIDEMIA (L) MIM:236792	2-Hydroxyglutaric acid (L) CT brain abnormalities [-] EEG abnormalities [-] Lysine MRI brain abnormalities [-] Protein total spinal fluid	alopecia ataxia behavior, autism or autistic-like blindness, visual loss, visual impairment dysarthria early death extrapyramidal signs hyperpigmentation hypertonia, spasticity hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation onset, infant onset, newborn Organic acids, urine pyramidal signs seizures speech development, delayed, abnormal tremor or twitching