title: Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.
abstract: We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy. In cerebrospinal fluid the levels of homovanilic acid and 5-hydroxyindoleacetic acid were very low and the level of L-dopa was very high. The diagnosis was confirmed by the lack of AADC activity in plasma, and a point mutation in the AADC gene. MRI revealed a slightly small volume of the prefrontal areas and normal myelination in both patients. Positron emission tomography using 2-deoxy-2[(18)F] fluoro-D-glucose was performed in one patient, which revealed hypometabolism in the prefrontal cortex and bilateral basal ganglia with a little laterality. These findings suggested that the severe dystonic features were caused by abnormal function of bilateral basal ganglia and severe psychomotor retardation could be due to abnormalities in prefrontal cortical activity.
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Ide
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Satoru
authors.initials: S
authors.lastname: Kinoshita
authors.forename: Jun-ya
authors.initials: JY
authors.lastname: Takahashi
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D005260:Female; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D049268:Positron-Emission Tomography; D017397:Prefrontal Cortex / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D035781:Siblings
chemical_list: D001142:Aromatic-L-Amino-Acid Decarboxylases; D005947:Glucose