Made available in DSpace on 2014-12-17T14:13:38Z (GMT). No. of bitstreams: 1 ErikaDMR.pdf: 1138296 bytes, checksum: 0a0b6c2daed88fef46a41da7760c0079 (MD5) Previous issue date: 2008-10-20 / Congenital generalized lipodystrophy is a rare genetic disease with autosomal recessive inheritance characterized by the generalized absence of subcutaneous adipose tissue and insulin resistance. The aim of our study was to determine the profile of patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) through their clinical history, eating habits, and socioeconomic and cultural aspects; assess food consumption and nutritional status of the study group; propose and evaluate a diet therapy model associated to oral supplementation with zinc to help in the control and prevention of metabolic complications associated to the pathology. Initial assessment of food consumption indicated a voracious appetite in all the patients studied. The introduction of zinc reduced appetite, contributing to patient adherence to the food plan proposed. It was also observed that the proposed diet contributed mainly to glycidic control, specifically with respect to HbA1c. The nutritional status of the patients investigated was adequate in terms of body mass index (BMI), arm muscle circumference (AMC), arm muscle area AMA, but triceps skinfold (TSF) indicated serious malnutrition. Our study is unique in the literature and provides important information to the field of nutrition and to individuals with this pathology. Furthermore, it contemplates the interdisciplinary and multidisciplinary requirements of the Postgraduate Program in Health Sciences of the Federal University of Rio Grande do Norte (UFRN), Natal, Brazil / A lipodistrofia generalizada cong?nita ? uma rara doen?a gen?tica com heran?a autoss?mica recessiva caracterizada por aus?ncia generalizada de tecido adiposo subcut?neo e resist?ncia insul?nica. O nosso estudo objetivou conhecer o perfil de portadores de lipodistrofia generalizada cong?nita mediante hist?ria cl?nica, h?bitos alimentares, aspectos s?cio-econ?micos e culturais; avaliar o consumo alimentar e o estado nutricional do grupo estudado; propor e avaliar um modelo de interven??o dietoter?pica associada ? suplementa??o oral com o elemento zinco para auxiliar o controle e a preven??o de complica??es metab?licas associada ? patologia. A avalia??o inicial do consumo alimentar indicou apetite voraz comum em todos os portadores investigados. Com a introdu??o do elemento zinco, verificou-se redu??o do apetite contribuindo para a ades?o dos mesmos ao plano alimentar proposto. Observou-se, tamb?m, que a dieta proposta contribuiu, principalmente, ao controle do metabolismo glic?dico, especificamente, em rela??o ? hemoglobina glicada (HbA1c). O estado nutricional dos portadores investigados revelou-se adequado em rela??o ao ?ndice de massa corporal (IMC), circunfer?ncia do m?sculo do bra?o (CMB) e ?rea da massa do bra?o (AMB), e indicou desnutri??o grave em rela??o ? prega cut?nea do tr?ceps (PCT). O nosso estudo ? ?nico na literatura e traz contribui??es importantes ao campo da nutri??o e ? popula??o portadora desta patologia. Al?m disto, contemplou os requisitos de interdisciplinaridade e multidisciplinaridade exigidos pelo Programa de P?sgradua??o em Ci?ncias da Sa?de