[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia]. / Tyrozyna w surowicy krwi u dzieci z fenyloketonuria i lagodna hiperfenyloalaninemia.

Serum tyrosine concentration, Phe/Tyr scores and psychomotor/mental development scores were analysed in 32 children with phenylketonuria (PKU) and 39 with mild hyperphenylalaninaemia. Observation period included the first 6 years of life. Tendency to tyrosine deficiency was observed; stronger in dietary treated PKU patients than in those with mild hyperphenylalaninaemia. Statistically significant differences between patient groups were found only in 3 and 6 years old children (lower tyrosine values in PKU patients). It was observed that evaluation of Phe/Tyr score value might be usefull in differentiation between PKU and mild hyperphenylalaninaemia. Moreover, the above score may help in the evaluation of hypo- and hyperalimentation state in the course of dietary treatment. The level of tyrosine deficiency in the analysed patient groups did not influence their normal intellectual development.

[Evaluation of treatment and preventive care for recurrent urolithiasis in children]. / Ocena skutecznosci leczenia i profilaktyki kamicy nawrotowej ukladu moczowego u dzieci.

Among 425 children with urolithiasis treated in the Paediatric Clinical Department of the National Research Institute of Mother and Child in Warsaw between 1976-1997, 50 of them i.e. 11.7% (26 boys and 24 girls) had recurrent urolithiasis. Patients' age was from 10 months to 16 years and 5 months. The number of recurrences of uroliothiasis before treatment in the Institute was from 1 to 8. Most of the children had numerous surgical operations, some of them excreted stones spontaneously. The etiology was determined in all cases. A metabolic cause of urolithiasis was found in 34 cases, i.e. 68% of the analysed group. They were as follows: idiopathic hypercalcuria--24 cases, uric acid urolithiasis--5 cases, cystynuria--4 cases, and incomplete distal renal tubular acidosis--1 case. Other reasons for urolithiasis were: infection--7 cases, idiopathic urolithiasis--8 cases, ren spongiosum--1 case. Prevention of recurrences depending on the etiology was successful. In 45 cases no recurrences were found. Recurrent urolithiasis was observed in 4 cases of cystynuria and in one case of incomplete tubular acidosis. The observation period was from 3-19 years.

Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland.

Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used. In addition, Phe and its urinary metabolites were estimated. A total of 560 cases of classical PKU, 99 mild hyperphenylalaninaemia and six atypical PKU cases were detected. The age of confirmatory estimations was from the 1st to 3rd month, in some cases above 3 months. Pretreatment Phe levels ranged from 12.5 to 70.7 mg/dl. The diet was started on a hospital basis and continued at home, controlled with Guthrie tests with age dependent frequency. Periodical multidimensional controls allowed evaluation of physical and mental development, together with biochemical scores (Hb, RBC, total plasma protein, Phe and tyrosin). In some patients trace elements (copper, iron, zinc and selenium) were also determined. Physical development of treated patients was normal. Biochemical scores presented transient relatively low Hb and iron concentrations especially in the youngest patients. DQ/IQ scores correlated with dietary control and social environment. In adults (age 19-26 years) off diet, mean IQ was 97.2 +/- 15.5 in those with good dietary control and 81.0 +/- 13.8 in those poorly controlled during treatment. In adults the average level of education attained was various types of professional school. Some patients attended or graduated from university.

[Evaluation of amino acids in plasma and amniotic fluid of women from genetic risk groups]. / Ocena aminogramu osocza i plynu owodniowego u kobiet z grupy ryzyka genetycznego.

Plasma and amniotic fluid amino acids were assayed in 20 women of genetic risk groups in the second trimester of pregnancy. The age of patients ranged from 19 to 38 years. Indication for amnio-puncture were: chromosomal aberration or neural tube defect in previous pregnancy or age of pregnant women over 35 years. Blood and amniotic fluid were obtained with transabdominal amnio-puncture performed routinely in prenatal diagnosis. Amino acids were assayed with ion exchange column chromatography, using automatic amino acids analyzer LKB 4400. The obtained results were compared with plasma and amniotic fluid amino acids patterns in healthy women at the same trimester of pregnancy. The comparison of plasma aminograms revealed increased concentrations (above 100%) of cystine and alanine in the examined group. In women with neural tube defect in previous pregnancy and in those over 35 years of age, increased proline, leucine and valine (above 50%) concentrations were found. Decreased concentrations of glutamic acid (about 60%) was detected in women with chromosomal aberration in previous pregnancy and in those older than 35 years. Amniotic fluid amino acid pattern showed in all three patients groups decreased values arginine and ornitine (amino acids of the urea cycle), and also of cystine and taurine. In women with neural tube defect in previous pregnancy and in those older than 35, decreased concentration of lysine, serine and leucine was found. Also in the above 2 groups increasing tendency in comparison to the values in healthy women was observed for alanine (30-40%) and asparagine (150-215%). No correlation was observed between particular amino acids plasma concentration and amniotic fluid in our patients. Ratios of plasma to the amniotic fluid (P/FA) amino acid concentrations were calculated for the examined group and compared with those in healthy pregnant women. While in the last population most of the analyzed scores is below 1 which points higher amino acid concentration in amniotic fluid than that in plasma, performed analysis revealed; an increase in P/AF ratio by 214% in the group of "neural tube defect" women, alanine, glutamine and ornitine P/AF ratios were 35-50% than the normal value. P/AF ratio for cystine by 176%, for tyrosine--100% and for ornitine and arginine--55-65% respectively higher than normal in patients of "chromosomal aberration". P/AF ratio for glutamine acid was decreased by about 50%. In patients examined because of age above 35 years, P/AF ratio for cystine was increased by 200%, for alanine by 125%, for proline, histidine, ornitine, phenylalanine, I-leucine and metionine were increased by 30%-50%.(ABSTRACT TRUNCATED AT 400 WORDS)

Hyperphenylalaninemia in Polish children's population.

Differential diagnosis in 144 cases of hyperphenylalaninemia detected through the newborn screening is discussed. In 123 infants phenylketonuria was diagnosed, so they were treated with the low phe diet. Verificatory examinations performed in diagnostically doubtful cases with the use of protein loading confirmed persistent enzymatic defect in all of them. In 21 infants with blood serum phenylalanine level below 15 mg% and lack of phe urinary metabolites, preliminary diagnosis of mild hyperphenylalaninemia was made and they were left without dietary treatment. A decrease with age in phenylalanine and tyrosine values was observed in this group. Mental development score, in the group as a whole, at age 3-7 years was normal. Two cases with relatively low IQ values have been discussed in regard to possible reason of their mental delay.