| Subacute presentation of propionic acidemia. | |
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MedLine Citation:
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PMID: 18174561 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Propionic acidemia is a hereditary metabolic disease caused by a deficiency of enzyme propionyl-CoA carboxylase, which is involved in the catabolism of ramified amino acids, odd-chain fatty acids, and other metabolites; the deficiency of this enzyme leads to an accumulation of toxic substances in the body. There are various forms of clinical presentation (severe neonatal, chronic intermittent, or slow and gradual). The case presented in this study was of a slow and insidious evolution form that was diagnosed when the child was 9 months old. Intracranial magnetic resonance imaging showed a slight increase in the signal intensity in sequences measured in T2 in addition to a restriction of the diffusion at the level of both putamens, which, together with biochemical and genetic analyses, confirmed the diagnosis of propionic acidemia. After initiating treatment involving a diet that was low in proteins, carnitine, and biotin, and an open-formula diet of ramified amino acids, the patient made progress, showing signs of improved hypotonia and increased weight gain. His vomiting stopped, and ketoacidosis was corrected. |
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Authors:
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Carmen Delgado; Carlos Macías; Maria de la Sierra García-Valdecasas; Manuel Pérez; Luis Ruiz del Portal; Luis Manuel Jiménez |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 22 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-01-04 Completed Date: 2008-03-07 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 1405-7 Citation Subset: IM |
Affiliation:
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Department of Clinical Biochemistry, Virgen del Rocio University Hospital, Seville, Spain. cdpecellin@ole.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis
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etiology Amino Acids / administration & dosage Biotin / administration & dosage Brain / pathology Carnitine / administration & dosage, analogs & derivatives, urine Diagnosis, Differential Diet, Protein-Restricted / methods Disease Progression Electrophoresis, Capillary Gastroenteritis / etiology Growth Disorders / etiology Humans Infant Magnetic Resonance Imaging Male Metabolism, Inborn Errors / blood, diagnosis*, diet therapy Propionic Acidemia Propionic Acids / urine* Treatment Outcome Vomiting / etiology |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/Propionic Acids; 17298-37-2/propionylcarnitine; 541-15-1/Carnitine; 58-85-5/Biotin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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