Síndrome de Reye-like como manifestación inicial de enfermedad mitocondrial / Reye-like syndrome as an initial manifestation of a mitochondrial disease

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[Phenylalanine metabolites in hyperphenylalaninemic children]. / Metabolitos de fenilalanina en niños hiperfenilalaninémicos.

Phenylalanine and its organic acid derivatives, phenylacetate, mandelic, o-hydroxy-phenylacetate, phenyllactate and phenylpyruvate are increased due to the enzymatic block in the normal pathway of phenylalanine metabolism in phenylketonuric and hyperphenylalaninemic patients. These organic acids are neurotoxic and whether they are responsible for behavior and learning problems in hyperphenylalaninemic children remains to be seen. The purpose of the present study was to evaluate: 1) variations of the organic acid derivatives of phenylalanine during dietary treatment and 2) the usefulness of its determination to further adjust the phenylketonuric diet. Twenty-eight children, ages 4 months to 16 years, were studied. On the same day, the level of phenylalanine in the plasma and phenylalanine metabolites in freshly collected urine samples were tested. Phenylalanine metabolites were detected in some patients with blood phenylalanine levels below 242 microM/L and they rose as levels of blood phenylalanine increased with the phenylpyruvic acid being the highest when blood phenylalanine levels were greater than 424 microM/L. These compounds are usually not detected in normal urine. However, we have or learning problems, thus we do not make further adjustments in the PKU diet on the basis of phenylalanine metabolites.

[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]. / Muerte súbita en un paciente con deficiencia de 3-hidroxi-3-metilglutaril-coenzima A liasa.

A new case of neonatal 3-hydroxy-3-methylglutaric aciduria is described. 3-hydroxy-3-methylglutaryl CoA lyase activities in leukocytes demonstrated the patient's homozygosity and the heterozygous character of the parents and two other members of the family. Dietetic management with low fat high carbohydrate diet together with protein restriction and carnitine resulted in a good control of the metabolic acidosis, the hypoglycemia, and the physical and neurological development. Nevertheless, sudden death occurred at the age thirteen months without any previous apparent trouble and the necropsia showed neither signs of infection nor hepatic or cardiac derangement.

[The neonatal form of propionic acidemia]. / Forma neonatal de acidemia propiónica.

A neonatal form of propionic acidemia is reported. Diagnosis was made by gas chromatography, mass spectrometry and urine excretion of 3-hydroxy-propionate and methylcitrate. Fibroblast cultures demonstrated an extremely low incorporation of C14-propionate, 6.5% range of normal values. Activity of propionyl-CoA-carboxylase was reduced. Intensive measures, including exchange-transfusion and ventilatory support, allowed life maintenance through neonatal period. Management of infant at three-month-old is based upon special diet with restriction of nocive amino acids, L-carnitine administration and infectious prophylaxis.