l -2-Hydroxyglutaric aciduria presenting with severe autistic features

Abstract l -2-Hydroxyglutaric aciduria ( l -2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. Recently, the disease causing gene has been discovered ( L2HGDH ) e...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2008-04, Vol.30 (4), p.305-307
Main Authors: Zafeiriou, D.I, Ververi, A, Salomons, G.S, Vargiami, E, Haas, D, Papadopoulou, V, Kontopoulos, E, Jakobs, C
Format: Article
Language:English
Subjects:
Alcohol Oxidoreductases - genetics
Amino Acid Metabolism, Inborn Errors - complications
Amino Acid Metabolism, Inborn Errors - genetics
Amino Acid Metabolism, Inborn Errors - urine
Autism
Autistic Disorder - etiology
Autistic Disorder - genetics
Autistic Disorder - urine
Brain - pathology
Glutarates - urine
Humans
Infant
l-2-Hydroxyglutaric aciduria
L2HGDH
Leukodystrophy
Macrocephaly
Magnetic Resonance Imaging
Male
Neurology
Phenotype
Severity of Illness Index
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Summary:Abstract l -2-Hydroxyglutaric aciduria ( l -2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. Recently, the disease causing gene has been discovered ( L2HGDH ) encoding l -2-hydroxyglutarate dehydrogenase. We present a 3-year-old boy with l -2-HGA, who demonstrated macrocephaly, noted already in utero with ultrasound. Cranial MRI demonstrated diffuse subcortical encephalopathy with increased signal of the subcortical white matter. Subsequent metabolic screening revealed increased levels of l -2-HGA, and genomic DNA analysis demonstrated two missense mutations in l -2-HGDG. Patient’s further motor development was mildly impaired, whilst his speech development was profoundly impaired (first words at the age of 2 years). Since the age of 2 years he started demonstrating autistic repetitive behaviors and movements, increasing aloofness to his environment and limitations in the variety of spontaneous activity (CARS score: 44/60-severe autism). Autism has not so far been described in l -2-HGA and may be considered as an additional feature of the phenotypic spectrum.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2007.09.005