Navegando por Palavras-chave "Erros inatos do metabolismo"

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    Avaliação clínico-nutricional e metabólica em mucopolissacaridoses.
    (Universidade Federal de São Paulo (UNIFESP), 2014) Monteiro, Vaneisse Cristina Lima [UNIFESP]; D'Almeida, Vania [UNIFESP]; http://lattes.cnpq.br/7220411418339421; http://lattes.cnpq.br/2944557082758156; Universidade Federal de São Paulo (UNIFESP)
    A mucopolissacaridose (MPS) e um erro inato do metabolismo (EIM), caracterizado pela defiCiência de enzimas lisossomais envolvidas na degradacao dos glicosaminoglicanos (GAG), resultando em uma doenca com manifestacoes clinicas progressivas e multissistemicas. Apesar de nao ser considerado um EIM de manejo dietoterapico, a MPS necessita de cuidado nutricional, haja vista fatores como a baixa estatura, alteracoes no balanco energetico; inadequacoes na composicao corporal e no consumo alimentar. O objetivo do presente estudo e investigar a condicao clinico nutricional e metabolica de individuos com MPS atendidos no Centro de Referencia em Erros Inatos do Metabolismo (CREIM). Este estudo caracteriza-se como transversal e descritivo, do estado clinico nutricional e metabolico por meio de antropometria, exames de bioquimica clinica, composicao corporal por pletismografia, avaliacao do consumo alimentar por registros alimentares, taxa metabolica de repouso por mensuracao do consumo de oxigenio e por equacoes de predicao de necessidade estimada de energia. A amostra foi constituida por 20 pacientes, 8 com MPS I, 5 com MPS II e 7 com MPS VI, a media de idade de 17 anos (±8,54) e em media ha 35 meses em terapia de reposicao enzimatica. A estatura foi menor nos pacientes com MPS VI (F(2,7)=15,939; p=0,00013), nao houve diferenca no indice de massa corporal entre as MPS. Os niveis de glicemia estavam dentro do intervalo de referencia, os niveis sericos da lipoproteina de alta densidade (HDL) estavam abaixo do recomendado em 9 de 10 adultos. Na avaliacao da composicao corporal 3 de 5 homens apresentaram cerca de 9% de gordura (magro), os pacientes moderadamente magros e com excesso de gordura consumiam macronutrientes dentro do intervalo aceitavel de distribuicao, a taxa metabolica de repouso variou entre os 5 pacientes avaliados sendo duas normais, duas altas e uma baixa. Nossos achados indicam que a MPS VI apresenta a menor estatura quando comparada aos tipos I e II, os pacientes adultos apresentaram niveis sericos de HDL menores e os pacientes magros consomem carboidratos abaixo do intervalo aceitavel
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    Inborn errors of metabolism: a clinical overview
    (Associação Paulista de Medicina - APM, 1999-11-04) Martins, Ana Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: A clinical review of inborn errors of metabolism (IEM) to give a practical approach to the physician with figures and tables to help in understanding the more common groups of these disorders. DATA SOURCE: A systematic review of the clinical and biochemical basis of IEM in the literature, especially considering the last ten years and a classic textbook (Scriver CR et al, 1995). SELECTION OF STUDIES: A selection of 108 references about IEM by experts in the subject was made. Clinical cases are presented with the peculiar symptoms of various diseases. DATA SYNTHESIS: IEM are frequently misdiagnosed because the general practitioner, or pediatrician in the neonatal or intensive care units, does not think about this diagnosis until the more common cause have been ruled out. This review includes inheritance patterns and clinical and laboratory findings of the more common IEM diseases within a clinical classification that give a general idea about these disorders. A summary of treatment types for metabolic inherited diseases is given. CONCLUSIONS: IEM are not rare diseases, unlike previous thinking about them, and IEM patients form part of the clientele in emergency rooms at general hospitals and in intensive care units. They are also to be found in neurological, pediatric, obstetrics, surgical and psychiatric clinics seeking diagnoses, prognoses and therapeutic or supportive treatment.
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    Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
    (Associação Paulista de Medicina - APM, 2001-09-06) Oliveira, Allan Chiaratti de [UNIFESP]; Dos Santos, Amelia Miyashiro [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vânia [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics of the Departments of Pediatrics and Morphology of Universidade Federal de São Paulo (UNIFESP)/Escola Paulista de Medicina.Newborn care unit at a tertiary care hospital. PARTICIPANTS: 101 children admitted into the Neonatal Unit were included in this study by presenting hypoglycemia, metabolic acidosis, jaundice, difficulty in gaining weight, diarrhea, vomiting, hepato- and/or splenomegaly, cataracts, apnea, convulsions, hypo- or hypertonia. DIAGNOSTIC TESTS: Tests routinely utilized, performed for qualitative research of abnormal substances excreted in the urine in situations of metabolic disorder. RESULTS: Children were included in the study mainly because of presenting hypoglycemia, jaundice and metabolic acidosis. Sixty-four newborns presented at least one positive test result. Most of the positivity was due to transitory metabolic alterations of the newborn, such as the case of Transitory Neonatal Tyrosinemia, presented by 29 patients. Nine infants were referred to the Center for Medical Genetics of Universidade Federal de São Paulo (UNIFESP) for continuation of the diagnostic investigation. For three of them, the tests applied permitted us to formulate a diagnostic hypothesis of mucopolysaccharidosis, tyrosinemia type I and non-ketotic hyperglycinemia, respectively. CONCLUSIONS: The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.