| Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. | |
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MedLine Citation:
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PMID: 19520530 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Shuhei Ide; Masayuki Sasaki; Mitsuhiro Kato; Takashi Shiihara; Satoru Kinoshita; Jun-ya Takahashi; Yu-ichi Goto |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-06-10 |
Journal Detail:
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Title: Brain & development Volume: 32 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-04 Completed Date: 2010-08-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 506-10 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2009 Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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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 Female Glucose / metabolism* Humans Infant Japan Magnetic Resonance Imaging Male Point Mutation Positron-Emission Tomography Prefrontal Cortex / metabolism, pathology, radionuclide imaging Siblings |
| Chemical | |
Reg. No./Substance:
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50-99-7/Glucose; EC 4.1.1.28/Aromatic-L-Amino-Acid Decarboxylases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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