| An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. | |
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MedLine Citation:
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PMID: 20821052 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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alpha-Methyl-acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months. |
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Authors:
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Emily Helen Smith; Dimitar K Gavrilov; Devin Oglesbee; William D Freeman; Michael W Vavra; Dietrich Matern; Silvia Tortorelli |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-9-4 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: - ISSN: 1573-2665 ISO Abbreviation: - Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-9-7 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Biochemical Genetics Laboratory - Hilton 3-10-02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA, smith.emily1@mayo.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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