دورية أكاديمية
A retrospective study of a patient with homozygous form of acute intermittent porphyria.
| العنوان: | A retrospective study of a patient with homozygous form of acute intermittent porphyria. |
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| المؤلفون: | Beukeveld GJ; Central Laboratory for Clinical Chemistry, University Hospital Groningen, The Netherlands., Wolthers BG, Nordmann Y, Deybach JC, Grandchamp B, Wadman SK |
| المصدر: | Journal of inherited metabolic disease [J Inherit Metab Dis] 1990; Vol. 13 (5), pp. 673-83. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2019- : [Hoboken, NJ] : Wiley Original Publication: [Lancaster, Eng.] MTP Press. |
| مواضيع طبية MeSH: | Porphyrias/*genetics, Acute Disease ; Aminolevulinic Acid/urine ; Child, Preschool ; Chromatography, High Pressure Liquid ; Erythrocytes/enzymology ; Female ; Homozygote ; Humans ; Hydroxymethylbilane Synthase/blood ; Infant ; Infant, Newborn ; Leukocytes/enzymology ; Porphyrias/urine ; Retrospective Studies ; Uroporphyrinogens/urine ; Uroporphyrins/urine |
| مستخلص: | In 1964 a child with an exceptional form of porphyria was described; she excreted persistently excessive amounts of delta-aminolaevulinic acid, porphobilinogen and uroporphyrin in her urine from early childhood. The biochemical profile resembled that of acute intermittent porphyria (AIP). The child died at the age of 8 years. Reinvestigation of some urine samples by HPLC revealed differences in comparison with urines of other patients with AIP. The clinical picture characterized by porencephaly and severe retardation in development was completely different from that of AIP. Her mother suffered from AIP but the father never had attacks. Investigations on blood and urine samples of the father showed that he also was affected. Due to the early onset in the index patient, its persistent character, and the fact that both parents are affected we postulate retrospectively to have diagnosed a case of homozygous or a double heterozygous AIP, hitherto undescribed. |
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| المشرفين على المادة: | 0 (Uroporphyrinogens) 0 (Uroporphyrins) 88755TAZ87 (Aminolevulinic Acid) EC 2.5.1.61 (Hydroxymethylbilane Synthase) |
| تواريخ الأحداث: | Date Created: 19900101 Date Completed: 19910110 Latest Revision: 20190828 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1007/BF01799566 |
| PMID: | 2246851 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 0141-8955 |
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| DOI: | 10.1007/BF01799566 |