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1.
Rev. MED ; 16(1): 99-105, jun. 2008. ilus, tab
Article in Spanish | LILACS | ID: lil-637140

ABSTRACT

La enfermedad de orina en jarabe de arce es un error innato del metabolismo de los cetoácidos de cadena ramificada, cuya acumulación produce una encefalopatía neonatal grave y que de no ser diagnosticada y tratada de forma precoz y oportuna, lleva invariablemente a la aparición de secuelas neurológicas permanentes y a un posterior desenlace letal. El presente artículo busca, mediante la descripción de un caso clínico sucedido en el Hospital Militar Central de Bogotá, hacer una revisión de la literatura acerca de la enfermedad, resaltando los mecanismos fisiopatológicos, la detección por diferentes pruebas de laboratorio, así como las estrategias de manejo, demostrando que gracias a los progresos realizados en su comprensión y enfoque, actualmente se puede hablar de evitar la mortalidad, alcanzando en muchos casos, una sobrevida a largo plazo sin mayores secuelas neurológicas, todo ello con un manejo interdisciplinario que logre un control metabólico adecuado...


Maple syrup urine disease is an inborn error of the metabolism of branched chain keto-acids whose accumulation produces a serious neonatal encephalopathy, which if not diagnosed and treated in a precocious and opportune way, will invariably lead to the appearance of permanent neurological impairments and an ulterior lethal outcome. The present article intends, by means of the description of a clinical case which occurred at the Hospital Militar Central, to perform a review of the existent literature on this disease, to revise its fisiopathological mechanisms as well as its detection using different laboratory tests and the different care strategies, to demonstrate that, thanks to the progress achieved in its understanding and focus, at the present moment we can speak of avoiding mortality, accomplishing in many cases long term survival without important neurological consequences, all by means of an interdisciplinary approach that achieves an appropriate metabolic control...


A doença de urina em xarope de arce é um erro inato do metabolismo dos cetoácidos de corrente ramificada, cuja acumulação produz uma encefalopatia neonatal grave e que de não ser diagnosticada e tratada de forma precoce e oportuna, leva invariavelmente à aparição de seqüelas neurológicas permanentes e a um posterior desenlace letal. O presente artigo procura, mediante a descrição de um caso clínico sucedido no Hospital Militar Central de Bogotá, fazer uma revisão da literatura a respeito da doença, ressaltando os mecanismos fisiopatológicos, a detecção por diferentes provas de laboratório, bem como as estratégias de tratamento, demonstrando que graças aos progressos realizados em seu entendimento e enfoque, atualmente se pode falar de evitar a mortalidade, atingindo em muitos casos, uma sobrevida em longo prazo sem maiores seqüelas neurológicas, tudo isso com um manejo interdisciplinares que consiga um controle metabólico adequado...


Subject(s)
Infant, Newborn , Keto Acids/urine , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/epidemiology , Metabolism, Inborn Errors/urine , Keto Acids , Metabolism, Inborn Errors
2.
Rev. para. med ; 21(2): 23-28, abr.-jun. 2007. graf
Article in Portuguese | LILACS | ID: lil-478291

ABSTRACT

Objetivo: verificar a freqüência de positivos na triagem urinária para erros inatos do metabolismo, em crianças com atraso no desenvolvimento e correlacionar aspectos clínicos da população estudada com os resultados da triagem. Método: estudo transversal, descritivo, realizado no Programa de Estimulação Precoce da Unidade de Referência Materno-Infantil e Adolescente do Estado do Pará, em 197 crianças com atraso no desenvolvimento, através da realização de testes qualitativos de urina. Resultados: cerca de 52,8% dos pacientes apresentaram resultados positivos para, pelo menos, um teste. As crianças oriundas de outros municípios do Estado do Pará detiveram maior proporção de positivos, com p=0,003*. Dentre as manifestações clínicas investigadas, as convulsões e os problemas de alimentação destacaram-se pela freqüência. Conclusões: os resultados encontrados mostram a relevância da pesquisa de erros inatos do metabolismo em crianças com atraso no desenvolvimento. A triagem urinária ainda é um recurso laboratorial importante a ser utilizado, na investigação inicial de erros inatos.


Objectives: to investigate the frequency of positive urinary screening for inborn errors of metabolism among children with delayed development and to correlate clinical characteristics of the population studied with the screening results. Methods: this was a cross-sectional descriptive study, performed within the Early Stimulation Program of the Mother-Child and Adolescent Referral Unit of the State of Pará, on 197 children with delays development, by means of undertaking qualitative urine tests. Results: around 52.8% (104/197) of the patients presented positive results for at least one test. Children originating from other municipalities outside of Belém, the State Capital, had a higher proportion of positive tests, with p=0,003*. There was a higher proportion of positive tests when similar cases were reported in the family, or when there were stillbirths or deaths among siblings. Among the clinical manifestations investigated, convulsions and feeding problems had prominent frequencies. Conclusions: the results encountered show the relevance of research regarding inborn errors of metabolism among children with delayed development. Urinary screening is also an important laboratory tool for use in initial investigations.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/urine
3.
São Paulo med. j ; 117(6): 251-65, Nov. 1999. tab
Article in English | LILACS | ID: lil-252288

ABSTRACT

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


Subject(s)
Humans , Metabolism, Inborn Errors , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/urine , Metabolism, Inborn Errors/therapy
4.
Pediatria (Säo Paulo) ; 16(2): 82-6, abr.-jun. 1994. ilus, tab
Article in Portuguese | LILACS | ID: lil-159080

ABSTRACT

Os autores apresentam de forma sistematizada alguns roteiros diagnosticos para auxiliar o neonatologista na deteccao dos principais erros inatos do metabolismo que podem ocorrer com sinais clinicos no periodo neonatal.


Subject(s)
Humans , Infant, Newborn , Metabolism, Inborn Errors/diagnosis , Signs and Symptoms , Metabolism, Inborn Errors/urine
5.
Medicina (B.Aires) ; 50(2): 107-16, 1990. tab
Article in Spanish | LILACS | ID: lil-87285

ABSTRACT

En tres hermanos de una familia argentina, de veintinueve, dieciocho y nueve años de edad, afectados de un grave proceso neurológico, los estudios revelaron en los dos primeros (el tercero fallecido) cambios ultraestructurales de vacuolización en células de diversos tejidos periféricos (biopsias de conjuntiva, encía ypiel) y en linfocitos, dato que fue sugestivo de mucopolisacaridosis, mucolipidosis o glicoproteinosis; sin embargo, las actividades de las enzimas lisosomales, la excreción de mucopolisacáridos y de oligosacáridos orcinol reactivos como la investigación de aspartilglucosaminuria resultaron normales. El hallazgo bioquínmico principal fue la detección de un marcado incremento urinario de un único compuesto resorcinol positivo, identificado por cromatografía en capa delgada como ácido N-acetilneuraminico (NANA-Libre) y cuya cuantificación por el método del ácito tiobarbitúrico, previo pasaje por columna del gel filtración (Sephadex G-15) o por resinas de intercambio iónico demostró por ambos métodos, una concentración de NANA-Libre alrededor de 15 veces superior al de los valores controles para edades similares. La conjunci[on de los hallazgos ultraestructurales, hipersialuria y el cuadro clínico actual permitieron establecer correspondencia entre los pacientes presentados y la Sialuria Tipo Finlandés o Enfermedad de Salla (ESA) originalmente descripta en Finlandia, aunque resultó distintivo en los primeros la prococidad y severidad del daño neurológico, expresado a partir...


Subject(s)
Adolescent , Adult , Humans , Male , Female , Metabolism, Inborn Errors/urine , Sialic Acids/urine , Chromatography, Thin Layer , Conjunctiva/ultrastructure , Gingiva/ultrastructure , Lymphocytes/ultrastructure , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/pathology , Skin/ultrastructure
6.
Indian J Pediatr ; 1970 Sep; 37(272): 487-91
Article in English | IMSEAR | ID: sea-78408
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