Enfermedad de orina a jarabe de arce / Maple syrup urine disease

Las enfermedades metabólicas pueden presentarse con síntomas, signos y laboratorios inespecíficos, que si no se consideran entre los diagnósticos diferenciales pueden retrasar el diagnóstico de estos pacientes, lo que lleva a un alto grado de secuelas neurológicas o muerte en etapas tempranas. La enfermedad de Orina a Jarabe de Arce es una enfermedad metabólica de baja incidencia caracterizada por la acumulación de niveles tóxicos de valina, isoleucina y principalmente leucina. Se presenta un paciente sin antecedentes que a los 11 días de vida comienza con mala actitud alimentaria, letargia y fontanela tensa. Descartadas las causas infectológicas se realizó un screening para enfermedades metabólicas. Se diagnosticó Leucinosis (Enfermedad de orina con olor a Jarabe de Arce) y se inició el tratamiento con restricción de leucina, valina e isoleucina en la dieta. A los pocos días del tratamiento el paciente mostró evidencias de mejoría clínica y en los parámetros de laboratorio.

Clinical signs, symptoms and lab tests of neonatal metabolic diseases may be unspecific and a high grade of suspicion is necessary to include them among the differential diagnosis avoiding a significant delay in recognizing this condition and consequent risk of neurologic handicap or early dead. Maple syrup urine disease is a congenital metabolic disorder with a low rate of prevalence and characterized by a toxic accumulation of the amino acids valine, isoleucine and mainly leucine. In this report we describe the history of a patient apparently healthy that on the 11th day after birth initiates symptoms like poor feeding, lethargy and tense fontanel. Excluded sepsis a work up for metabolic disease was performed, being diagnosed a leucinosis (Maple syrup urine disease). A dietary treatment with leucine, valine and isoleucine restriction was immediately initiated and a few days after the patient showed significant clinical and lab improvement. A short description and discussion of this disease is presented.

Experimental study of the possible effect of valsartan on insulin resistance in fructose- fed albino rats

Insulin resistance [IR] is a consequence of high fructose fed diet in rats. The current study was carried out to declare if tumor necrosis factor alpha [TNF-alpha] exerts a partial role the development of IR in non-obese rat model; fructose fed rats [FFR] like that happens in obese rat models. We evaluate the influence of valsartan [a selective blocker of angiotensin receptor type-1] in comparison to metformin [a known insulin sensitizer] on enhancement of insulin sensitivity in FFR. Rats were divided into 2 equal groups [36 rats /group], one group received high fructose diet to induce insulin resistance and the other included standard diet fed rats. Each group is further divided into 3 equal subgroups, [standard diet+ saline], [FFR+ saline], [Standard diet + metformin], [FFR+ metformin]. [Standard diet+ valsartan] and [FFR+ valsartan]. In all rats, body weight, fasting serum glucose, fasting serum insulin, insulin sensitivity test, fasting glucose insulin ratio [FGIR], serum TNF-alpha and serum malondialdehyde [MDA] were measured. Result revealed that administration of valsartan to FFR produced a comparable improvement of insulin resistance. In addition valsartan treatment in FFR produced significant decrease in serum TNF-alpha and MDA. It could be concluded that TNF-alpha and angiotensin II might regulate insulin sensitivity in non-obese FFR

Plasma amino acid analyses in two cases of maple syrup urine disease.

Maple syrup urine disease is a rare inborn error of metabolism, characterized by elevated plasma levels of branched chain amino acids and urinary excretion of branched chain keto acids. Plasma amino acid levels in two subjects were followed by deproteinizing plasma, derivatizing the free amino acids with phenylisothiocyanate, and analysis by HPLC. The results indicate that valine, leucine and isoleucine are elevated in Maple syrup urine disease, and that leucine remains high even after dietary treatment.

Leucinose: estudo de um caso / Leucinosis: study of a case

Apresentaçäo de um caso de leucinose em recém-nascido do sexo feminino, diagnóstico no 26§ dia de vida. O quadro neurológico se caracteriza por alteraçöes do tono muscular, convulsöes, letargia e dificuldade respiratória. A demosntraçäo do aumento de aminoácidos de cadeia ramificada através do aminoacidograma constituiu o teste diagnóstico mais importante e o tratamento com MSUD resultou na boa evoluçäo da paciente