Varón joven con osteoporosis asociada a fenilcetonuria / Young male with phenylcetonuria associated osteoporosis

Se presenta el caso de un varón joven con osteoporosis asociada a fenilcetonuria.El diagnóstico y tratamiento precoz con el ajuste de la ingesta diaria de fenilalaninade la dieta ha mejorado la supervivencia de estos pacientes. Por ello, ladescripción de este caso clínico tiene como objetivo resaltar una de las principalescomplicaciones de esta entidad durante la juventud o en la edad adulta

We report a case of a young male with osteoporosis associated with phenylketonuria.The early diagnosis and treatment with phenylalanine restriction inthe diet has increased the survival of patients with this disease. The objectiveof this report is to increase the awareness of one of the main complications duringyouth or adult life

[Elastase-alpha 1-antiprotease in neonatal sepsis]. / Elastasa-alpha 1-antiproteasa en la sepsis neonatal.

Elastase-alpha 1-proteinase inhibitor complex (E-alpha 1-PI) was evaluated in 682 blood samples from 516 newborn infants. They were divided into three groups: control (group 1; n = 99), non-infectious (group 2; n = 338) and infectious (group 3; n = 82). The plasma values of E-alpha 1-PI complex (median; minimum-maximum, in microgram/L) were 180; 46-296 in group 1, 337; 40-2524 in group 2 and 954.5; 183-8160 in group 3. Significant differences were found between the groups (p < 0.001). E-alpha 1-PI complex in blood showed a sensitivity of 75%, specificity of 81.9%, positive predictive value of 30.6% and negative predictive value of 96.8% for the diagnosis of neonatal infection.

[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.

[Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers]. / Deficiencia de ornitina carbamil transferasa. Estudios bioquímicos realizados para el diagnóstico de cuatro casos y la identificación de portadores.

The biochemical studies for the diagnosis of four cases of OCT deficiency are described: two male sibs, with total enzymatic deficiency and neonatal death, and two symptomatic heterozygous females. The enzymatic activity was determined in hepatic necropsy or duodenal biopsy from these patients and carriers were identified among their relatives. The usefulness of the enzymatic analysis compared with the protein loading test followed by the determination of ammonia and orotic acid for the female carrier detection is discussed, and the interest of their identification to prevent the risk of hyperammonemic crisis with possible neurologic sequels is stressed.

[Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center]. / Hiperfenilalaninemia y fenilcetonuria. Interés del diagnóstico precoz y seguimiento de la enfermedad en un centro de referencial.

We made a review of the state of patients diagnosed of hyperphenylalaninemia in the Center for Neonatal Screening and managed in a Reference Center for Cataluña. The same protocol of treatment and follow up clinical-biochemical-dietitian was used in the 31 patients. The patients diagnosed early were classified in two groups using as criterion of selection the phenylalaninemia and the tolerance to exogen phenylalanine. In the first group we included children with levels of phenylalanine below 10 mg/dl and without dietary restriction, while the children of the second group had levels above 10 mg/dl and receiving dietetic restriction of this specific aminoacid. The evolution of all patients was satisfactory as we can observe on the results; in the same way the patients PKU diagnosed in late state were all with mental retardation. Finally we commented different problems presented in the management of this patients.

[Follow up protocol of patients with hyperphenylalaninemia]. / Pauta de seguimiento para pacientes con hiperfenilalaninemia.

The protocol of treatment and follow-up of diagnosed as hyperphenylalaninemia (4 mg/dl) by neonatal screening patients, is presented. When admission to the Reference Center for Cataluña in relation to their concentration of phenylalanin in plasma. The only infants who receive restricted in this aminoacid diet, are those with plasma concentrations greater than 10 mg/dl.

[The value of granulocyte elastase in the early diagnosis of infantile meningitis]. / Utilidad de la elastasa granulocitaria en el diagnóstico precoz de las meningitis infantiles.

Elastase-alpha 1-proteinase inhibitor complex (E-alpha 1-PI) was evaluated in blood and cerebrospinal fluid in 176 patients between 1 month and 15 years old. They were divided in three groups: group 1 (n = 61) children without meningitis, group 2 (n = 69) non bacterial meningitis and group 3 (n = 46) bacterial meningitis. The CSF values of E-a 1-PI complex (P50: P2.5; P97.5) (micrograms/L) were (2.85: 0.1; 19.1) in group 1 (31.5: 0.88; 735) in group 2 and (247: 2.6; 10370) in group 3. Significant differences were found in it (p less than 0.001). We didn't find any differences between non bacterial meningitis group and bacterial meningitis group when the granulocytes count were below 100 X mm3. The blood values of E-a 1-PI complex (P50: P2.5; P97.5) (micrograms/L) were (1122: 337; 5005) in group 3, significantly greater (p less than 0.001) than in group 2 (346: 136; 1612). In CSF E-alpha 1-PI complex showed us a sensitivity of 89% and a specificity of 27.7% in the diagnosis of bacterial meningitis, while in blood stream, it was 85.3% and 85.4 respectively.

[Study of calcium and magnesium in cerebrospinal fluid and its' relation to different neurological diseases (author's transl)]. / Estudio de calcio y magnesio en líquido cefalorraquídeo en diversas enfermedades neurológicas.

Calcium and magnesium have been measured in cerebrospinal fluid by atomic absorption spectrophotometry in children. The normal values on 194 C.S.F., obtaining for the calcium x: 5.24 mg. % and s: +/- 0.378 mg. % [50--56 % lower than serum values] and for magnesium x: 2.64 mg. % and s: +/- 0.155 mg. % [19--33 % higher than serum values] are found. Higher values of calcium at birth and on the first year of life and no differences with magnesium are noted. Applying the t-test, between normal values obtained and the different pathological entities, authors find singificant differences on the level of calcium, finding higher values on the following diseases: dehydration by diarrhoea, poliomyelitis, anoxy, tumours, bacterial meningitis. Magnesium showed values significantly higher in dehydration by diarrhoea and epilepsy, and values significantly lower on febrile convulsions and virical and bacterial meningitis.