Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient ac...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2020/8873219 |
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| author | G. N. Cerbino L. Abou Assali L. S. Varela L. Tomassi A. Batlle V. E. Parera M. V. Rossetti |
| author_facet | G. N. Cerbino L. Abou Assali L. S. Varela L. Tomassi A. Batlle V. E. Parera M. V. Rossetti |
| author_sort | G. N. Cerbino |
| collection | DOAJ |
| description | Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS). An Argentinean man with a family history of PCT who carried the UROD variant c.10_11insA suffered severe abdominal pain. Biochemical testing was consistent with AIP, and molecular analysis of HMBS revealed a de novo variant: c.344 + 2_ + 5delTAAG. This is one of the few cases of porphyria identified with both UROD and HMBS mutations and the first confirmed case of porphyria with dual enzyme deficiencies in Argentina. |
| format | Article |
| id | doaj-art-de19d31390a34ee99f897b82a8955fec |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-de19d31390a34ee99f897b82a8955fec2025-08-20T03:26:29ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/88732198873219Acute Intermittent Porphyria in a Man with Dual Enzyme DeficienciesG. N. Cerbino0L. Abou Assali1L. S. Varela2L. Tomassi3A. Batlle4V. E. Parera5M. V. Rossetti6Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaHospital General de Agudos, Buenos Aires, ArgentinaCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP)-CONICET, Hospital de Clínicas-UBA, Buenos Aires, ArgentinaPorphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS). An Argentinean man with a family history of PCT who carried the UROD variant c.10_11insA suffered severe abdominal pain. Biochemical testing was consistent with AIP, and molecular analysis of HMBS revealed a de novo variant: c.344 + 2_ + 5delTAAG. This is one of the few cases of porphyria identified with both UROD and HMBS mutations and the first confirmed case of porphyria with dual enzyme deficiencies in Argentina.http://dx.doi.org/10.1155/2020/8873219 |
| spellingShingle | G. N. Cerbino L. Abou Assali L. S. Varela L. Tomassi A. Batlle V. E. Parera M. V. Rossetti Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies Case Reports in Genetics |
| title | Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies |
| title_full | Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies |
| title_fullStr | Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies |
| title_full_unstemmed | Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies |
| title_short | Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies |
| title_sort | acute intermittent porphyria in a man with dual enzyme deficiencies |
| url | http://dx.doi.org/10.1155/2020/8873219 |
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