Document Detail

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.
MedLine Citation:
PMID:  19520530     Owner:  NLM     Status:  MEDLINE    
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.
Shuhei Ide; Masayuki Sasaki; Mitsuhiro Kato; Takashi Shiihara; Satoru Kinoshita; Jun-ya Takahashi; Yu-ichi Goto
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-06-10
Journal Detail:
Title:  Brain & development     Volume:  32     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-04     Completed Date:  2010-08-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  506-10     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 Elsevier B.V. All rights reserved.
Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / metabolism*,  pathology
Aromatic-L-Amino-Acid Decarboxylases / blood,  deficiency*,  genetics
Basal Ganglia / metabolism,  pathology,  radionuclide imaging
Brain / metabolism*,  pathology,  radionuclide imaging
Brain Diseases, Metabolic, Inborn / diagnosis,  genetics,  metabolism*,  pathology
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities / diagnosis,  genetics,  metabolism
Dystonia / diagnosis,  genetics,  metabolism
Glucose / metabolism*
Magnetic Resonance Imaging
Point Mutation
Positron-Emission Tomography
Prefrontal Cortex / metabolism,  pathology,  radionuclide imaging
Reg. No./Substance:
50-99-7/Glucose; EC Decarboxylases

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