Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria I. The effect of diet

Welland, Frederick H.; Hellman, Emanuel; Gaddis, Elaine M.; Collins, Annie; Hunter, George W.; Tschudy, Donald P.

doi:10.1016/0026-0495(64)90103-9

Cited by 114 publications

(22 citation statements)

References 45 publications

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“…A similar phenomenon, first described in rats was termed the 'glucose effect' [2]. Subsequently, it was shown that other carbohydrates have also a marked effect on porphyrin metabolism in humans with hepatic porphyria both in the latent phase and during attacks [12][13][14][15][16][17].…”

Section: Discussionmentioning

confidence: 83%

An in vitro model demonstrating the glucose effect and the influence of fasting on porphyrin metabolism

et al. 1982

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Section: Discussionmentioning

confidence: 83%

An in vitro model demonstrating the glucose effect and the influence of fasting on porphyrin metabolism

et al. 1982

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“…There have also been only few studies of nutrition in patients with these conditions. In metabolic ward studies, reductions in caloric and carbohydrate intake have increased urinary ALA and PBG and precipitated symptoms (26,27). Reduced energy intake, usually instituted in an effort to lose weight, commonly contributes to attacks of AIP.…”

Section: (3) Nutritional Factorsmentioning

confidence: 99%

Gene-Environmental Interactions: Lessons from Porphyria

Sassa

2003

Environ. Health Prev. Med.

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The porphyrias are uncommon, complex, and fascinating metabolic conditions, caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. Two cardinal symptoms of the porphyrias are cutaneous photosensitivity and neurologic disturbances. Molecular analysis of gene defects has shown that there are multiple and heterogeneous mutations in each porphyria. Patients with symptomatic porphyria can suffer greatly, and, in rare cases, may die. While congenital porphyrias are inherited, other forms of porphyria occur as acquired diseases. In addition, not all gene carriers of inherited porphyrias develop clinical disease and there is a significant interplay between the gene defect and acquired or environmental factors. The variable response of porphyrias to acquired factors may likely reflect genetic polymorphisms in drug metabolism. The lessons from acute hepatic porphyria, such as acute intermittent porphyria, are very useful in clarifying the complex nature of the clinical expression of metabolic disorders.

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“…A maioria dos ataques é precipitada por fatores endógenos ou exógenos ambientais, porém a causa dos ataques permanece desconhecida em cerca de 30% dos casos 38 . Há diversos fatores que podem levar a AIP latente a se manifestar, como certas drogas (sulfonamidas e barbituratos) 5 , hormônios sexuais endógenos 39 ou exógenos 40 , excesso de álcool 41 , nutrição inadequada 42 , estresse 43 , infecções 44 , fumo 45 e certas substâncias quími-cas, como terpenos, solventes orgânicos, drogas lipofílicas 15 . Entretanto a sensibilidade a esses fatores é muito variável entre os pacientes e até mesmo em um mesmo indivíduo 41 .…”

Section: Porfiria Aguda Intermitenteunclassified

Danos ao DNA promovidos por ácido 5-aminolevulínico: possível associação com o desenvolvimento de carcinoma hepatocelular em portadores de porfiria aguda intermitente

Onuki¹,

Teixeira²,

Medeiros³

et al. 2002

Quím. Nova

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Recebido em 26/6/01; aceito em 1/10/01 DNA DAMAGE INDUCED BY 5-AMINOLEVULINIC ACID: A POSSIBLE ASSOCIATION WITH THE DEVELOPMENT OF HEPATOCELLULAR CARCINOMA IN ACUTE INTERMITTENT PORPHYRIA PATIENTS. 5-Aminolevulinic acid (ALA) is a heme precursor accumulated in acute intermittent porphyria (AIP), which might be associated with hepatocellular carcinoma (HCC) in symptomatic patients. Under metal catalyzed oxidation, ALA and its cyclic dimerization product, 3,6-dihydropyrazine-2,5-dipropanoic acid, produce reactive oxygen species that damage plasmid and calf thymus DNA bases, increase the steady state level of 8-oxo-7,8-dihydro-2´-deoxyguanosine in liver DNA and promote mitochondrial DNA damage. The final product of ALA, 4,5-dioxovaleric acid (DOVA), is able to alkylate guanine moieties, producing adducts. ALA and DOVA are mutagenic in bacteria. This review shows an up-to-date literature data that reinforce the hypothesis that the DNA damage induced by ALA may be associated with the development of HCC in AIP patients.Keywords: 5-aminolevulinic acid; acute intermitent porphyria; DNA damage. PORFIRIASAs porfirias são definidas como doenças inatas ou adquiridas, relacionadas à deficiência de enzimas -inibição ou insuficiência -da via biossintética do grupo heme (Esquema 1) 1 . Esta deficiência resulta na produção excessiva e excreção de porfirinas e de seus precursores 2-6 . As porfirias são tradicionalmente classificadas com base no principal órgão que produz os metabólitos porfíricos em excesso (fígado ou os tecidos eritropoiéticos), na ocorrência ou não de ataques agudos e nas lesões cutâneas (fotossensibilidade) e/ou neurológicas produzidas 5,7,8 . Tipo de porfiria Aguda Hepática CutâneaPorfiria deficiente em ALA desidratase X X Porfiria aguda intermitente (AIP) X X Coproporfiria hereditária (HCP) X X X Porfiria variegata (VP) X X X Porfiria cutânea tarda (PCT) X X Porfiria eritropoiética congênita (CEP) X Protoporfiria eritropoiética (EPP) X A natureza molecular do defeito genético é altamente heterogê-nea e defeitos múltiplos têm sido demonstrados em cada tipo de porfiria 3,5 . Alguns modelos animais para os estudos dos diferentes tipos de porfiria já existem naturalmente, no caso de EPP e CEP e alguns foram desenvolvidos em laboratório, para EPP e porfirias hepáticas 9,10

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Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria I. The effect of diet

Cited by 114 publications

References 45 publications

An in vitro model demonstrating the glucose effect and the influence of fasting on porphyrin metabolism

An in vitro model demonstrating the glucose effect and the influence of fasting on porphyrin metabolism

Gene-Environmental Interactions: Lessons from Porphyria

Danos ao DNA promovidos por ácido 5-aminolevulínico: possível associação com o desenvolvimento de carcinoma hepatocelular em portadores de porfiria aguda intermitente

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