Retrospective diagnosis of carnitine‐acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
| العنوان: | Retrospective diagnosis of carnitine‐acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents |
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| المؤلفون: | C R Roe, F. Demaugre, Audrey Boutron, A. Legrand, J. M. Saudubray, Michèle Brivet, F. Poggi, David S. Millington, Abdelhamid Slama |
| المصدر: | Journal of Inherited Metabolic Disease. 19:181-184 |
| بيانات النشر: | Wiley, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Acylation, Carnitine-acylcarnitine translocase, Carnitine, Internal medicine, Genetics, medicine, Humans, Carnitine palmitoyltransferase II, Translocase, Lymphocytes, Carnitine-acylcarnitine translocase deficiency, Inner mitochondrial membrane, Genetics (clinical), Retrospective Studies, Carnitine O-Palmitoyltransferase, biology, Infant, Intracellular Membranes, Fibroblasts, medicine.disease, Mitochondria, Endocrinology, Carnitine Acyltransferases, Biochemistry, Mitochondrial matrix, biology.protein, Female, Carnitine palmitoyltransferase I, medicine.drug |
| الوصف: | Four steps are required for the transport of long-chain fatty acids (LCFA) into the mitochondrial matrix : a plasma membrane carnitine transporter maintains the intracellular supply of carnitine ; an outer mitochondrial membrane carnitine palmitoyltransferase I (CPT I) converts acyl-CoA compounds to their acylcarnitine analogues ; a carnitine-acylcarnitine translocase (CATR) mediates the transmembrane transfer of acylcarnitines ; an inner mitochondrial membrane carnitine palmitoyltransferase II (CPT II) allows the re-esterification of acylcarnitines to form acyl-CoA esters. Inherited metabolic diseases affecting CATR and CPT II are recognized as a contributing cause of life-threatening events in infancy. In these two disorders, long-chain acylcarnitines are not efficiently converted to their corresponding acyl-CoA esters, and prominent long-chain acylcarnitine species are seen in plasma. It has been speculated that increased concentrations of long-chain acylcarnitines may promote cardiac arrhythmia (Corr et al 1989). Tandem mass spectrometry has enabled quantitative analysis of acylcarnitines in small volumes of blood, including filter paper blood spots used for neonatal screening (Millington et al 1991). Determination of the acylcarnitine profile in the Guthrie card is particularly useful in case of sudden infant death when no other biological specimen had been preserved. The finding of abnormal accumulation of C 18 and C 16 species argues in favour of CATR or profound CPT II deficiency. However, the definitive diagnosis of these two disorders requires documentation of the specific enzymatic defect in cellular material. Both defects are transmitted as autosomal recessive traits. The enzymatic activities of obligate heterozygotes are approximately 50% of normal activity (Stanley et al 1992; Elpeleg et al 1993). Thus, enzymatic determinations in parents' cells can be used to establish the diagnosis. |
| تدمد: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01799424 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ca06fa1450d3e1c9b6867f44ae52495 https://doi.org/10.1007/bf01799424 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....8ca06fa1450d3e1c9b6867f44ae52495 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732665 01418955 |
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| DOI: | 10.1007/bf01799424 |