title: Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
abstract: A case of 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase deficiency, an X-linked defect of isoleucine degradation, is reported. A 10-month-old male infant with developmental regression, visual impairment, movement disorder, and seizures, he suffered acute deterioration with multiorganic failure after a respiratory infection. Laboratory studies revealed hyperlactacidemia and increased excretion of 2-methyl-3-hydroxybutyric acid (2M3HBA) and tiglylglycine (TG). The diagnosis was established by molecular genetic analysis of the involved X-chromosome gene HADH2. The patient was hemizygous for the mutation R130C (c. 388C>T). Magnetic resonance imaging disclosed frontotemporal atrophy and bilateral signal abnormalities in the putamina. The presence of basal ganglia abnormalities and lactic acidemia, also shared by mitochondrial disorders, suggests a common pathophysiologic mechanism of damage.
authors: Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain. rcazorlac@hotmail.com <rcazorlac@hotmail.com>
authors: María R
authors: MR
authors: Cazorla
authors: Alfonso
authors: A
authors: Verdú
authors: Celia
authors: C
authors: Pérez-Cerdá
authors: Antonia
authors: A
authors: Ribes
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D001284:Atrophy; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D041321:Chromosomes, Human, X; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D011699:Putamen / Q000378:metabolism / Q000473:pathology; D013702:Temporal Lobe / Q000378:metabolism / Q000473:pathology
chemical_list: D007532:Isoleucine; D000429:Alcohol Oxidoreductases; D015094:3-Hydroxyacyl CoA Dehydrogenases; C419903:2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase