Estudio de pacientes con aciduria glutarica tipo II, mediante la incubacion de fibroblastos con acidos palmitico y miristico tritiados / Study of patients with type II glutaric aciduria by incubation of fibroblasts with tritiated palmitic and myristic acids

Introduccion: la aciduria glutarica tipo II, o deficiencia multiple de acil-CoA deshidrogenasas,es un trastorno causado por deficiencia de la flavoproteina de transferencia de electrones,de su oxidorreductasa o de ambas; se trata de una enfermedad metabolica autosomica recesiva, caracterizada por acidosis, hipoglicemia, aciduria organica, olor a pies sudados y malformaciones en cerebro y riñones. Objetivo: analizar las tasas de oxidacion de sustratos tritiados por fibroblastos de pacientescon aciduria glutarica tipo II. Materiales y metodos: se incubaron fibroblastos de dos pacientes con aciduria glutarica tipoII y de 20 controles en presencia de acidos palmitico y miristico tritiados. Resultados: se encontro muy deprimida (16%-18%) la oxidacion de los sustratos tritiados porlos fibroblastos procedentes de pacientes con aciduria glutarica tipo II en comparacion con los controles. Conclusion: la prueba estudiada permite la confirmacion in vitro del diagnostico de aciduriaglutarica tipo II.

Introduction: Glutaric aciduria type II (GA II), or multiple acyl-CoA dehydrogenase deficiency, is a disorder caused by deficiency of either electron transport flavoprotein or electron transport flavoprotein oxyreductase. It is an autsomal recessive metabolic disease, characterized by acidosis, hypoglycemia, organic aciduria, sweat-sock odour, and malformations in brain and kidneys. Objective: To analyse the oxidation rate of tritiated substrates by fibroblasts of patients with GA II. Materials and methods: Fibroblasts of two patients with GA II were incubated with tritiated palmitic and myristic acids. Results: Oxidation of tritiated substrates by fibroblasts of patients with GA II was very depressed (16%-18%) in comparison with controls. Conclusion: Diagnosis of GA II may be confirmed in vitro by the studied test.

Two cases of ambigious genitalia

The term "Ambiguous genitalia" applies to confusing appearance of the external genitalia. Sex assignment becomes essential for the parent's peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. Two cases with all different genetic sex, gonadal sex and phenotypic sex are described. First case is that of congenital adrenal hyperplasia [CAH] in a month old baby whose genotype was female with laboratory investigations exposing her diagnosis. She is doing well with oral hydrocortisone and fludrocortisone. Second case is that of probable 5-alpha reductase deficiency who would probably need future surgery

Non haematological effects of iron deficiency - a perspective.

Iron deficiency is a continuum beginning from lowering of tissue stores to the phase of exhausted tissue stores, interference with iron driven biochemical reactions in the body, microcytosis, hypochromia, increasing severity of anaemia with all its attendant consequences. Iron deficiency anaemia is a very well known concept but what is often not appreciated is the effect of broad canvas of iron deficiency on various tissues, organs and systems in our body in addition to iron deficiency anaemia leading to concept of "Iron deficiency disease". In this condition not only tissue delivery of oxygen is compromised but proliferation, growth, differentiation, myelinogenesis, immunofunction, energy metabolism, absorption and biotransformation are compromised leading to abnormal growth and behaviour, mental retardation, reduced cardiac performance and work efficiency, infection etc which ultimately leads to the concept that "iron deficiency not only breaks the machine but also wrecks the machinery."

Aciduria glutárica tipo I: una encefalopatía metabólica extrapiramidal / Type I glutaric aciduria: an extrapyramidal metabolic encephalopathy

Se describen tres niños, uno varón, de 4, 6 y 2 años de edad, afectados de aciduria glutárica tipo I. Su desarrollo fue normal hasta la segunda mitad del primer año de vida, cuando sufrieron alteración de conciencia y convulsiones, seguidas de pérdida de las habilidades adquiridas, distonía y movimientos anormales. La tomografía axial y resonancia nuclear magnética de cerebro mostraron atrofia frontotemporal y de los núcleos caudados y putámenes. Habíagran cantidad de ácidos glutárico, 3-hidroxiglutárico y glutacónico en orina y actividad disminuida de la enzima glutaril CoA deshidrogenasa en cultivos de fibroblastos de los tres niños, confirmándose así el diagnóstico de esta afección metabólica