| Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 17957492 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Late-onset neurological disease has rarely been reported in patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. We present two siblings with GCDH deficiency. One of them presented with the classic neurological disease (patient 1). Routine investigation of family members revealed that her apparently unharmed 13-year-old sister was also affected (patient 2). Patient 2 started to have academic difficulties in the months prior to our assessment. Her clinical examination was normal, with the exception of a cranial circumference of 57 cm (slightly over the 98 th centile). A severe leukoencephalopathy was demonstrated on MRI. Neuropsychological assessment showed an IQ within the normal-low range and a mild impairment of memory and executive function. Previous reports on late-onset neurological disease in GCDH deficiency have revealed that progressive leukoencephalopathy develops over time. Following the recently published guideline for the diagnosis and management of GCDH deficiency, both patients are receiving dietary treatment in combination with L-carnitine supplementation. We emphasize the need to search for chronic neurological changes of late-onset type in apparently unaffected GCDH deficiency cases diagnosed in routine family investigations. |
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Authors:
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E López-Laso; J García-Villoria; E Martín; P Duque; A Cano; A Ribes |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-10-22 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 30 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2007 Nov |
Date Detail:
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Created Date: 2007-12-06 Completed Date: 2008-01-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 979 Citation Subset: IM |
Affiliation:
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Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain. eduardo.lopez.sspa@juntadeandalucia.es |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Metabolism, Inborn Errors / diagnosis*, pathology* Carnitine / therapeutic use Female Glutaryl-CoA Dehydrogenase / deficiency* Humans Magnetic Resonance Imaging / methods Memory Nervous System Diseases / complications, pathology Neurology / methods Neuropsychological Tests |
| Chemical | |
Reg. No./Substance:
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541-15-1/Carnitine; EC 1.3.99.7/Glutaryl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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