CONICET | Buscador de Institutos y Recursos Humanos

Porphyrias are metabolic alterations resulting from an enzymatic deficiency in heme biosynthesis. Particularly,acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by a decrease in the activity of the enzyme porphobilinogen deaminase (PBG-D). This deficiency is associated with a marked increase in the expression of δ-aminolevulinate synthetase 1 (ALA-S1), first and regulatory enzyme of heme pathway, and the accumulation of ALA and PBG precursors. AIP is the most frequent of the acute hepatic Porphyrias, presenting recurrent and intense crises with life risk. Clinically, AIP is characterized by neurovisceral, neurological and psychiatric symptomatology. Fasting and marked reductions in caloric or carbohydrate intake are a frequent cause of attacks.During an acute attack, AIP patients diagnosed in the CIPYP receive an overload of glucose (400/500 g/day, i.v.), folic acid and vitamin B complex. After the remission of the crisis, the treatment consists of diet with a high carbohydratecomsumption (300 g/day, orally) combined also with folic acid and vitamin B complex. According to clinical follow-up, this treatment hadbeen shown to be effective in preventing attacks and/or decreasing its intensity.Numerous studies have shown that insulin-like growth factor type 1 (IGF1) interacts with insulin to modulate carbohydrate metabolism. Taking into account that we have found that 40% of the AIP patients had low IGF1 values and that the deficiency of this factor alters the lipid metabolism, the aim was to study the influence of a high-carbohydrate diet on the glycemic and lipid profile in apopulation of AIP patients with low and normal IGF1 levels.Methods: AIPpatients (n = 88) of both sexes (7-74 years old) diagnosed in the CIPYPwere studied. All of them signed a consent authorizing the use of their biological samples in clinical research. Plasmatic IGF1 levels (References values, RV, depends on age) and urinary ALA (RV

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