[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.

Early detection of inborn errors of metabolism in Poland.

A screening programme for early detection of inborn errors of metabolism in Polish newborn population has been evaluated. Guthrie bacterial inhibition assay for amino-acidopathies, Beutler and Baluda test for galactosemia, meconium test and ion-selective chloride electrode for cystic fibrosis, radioimmunological test for congenital hypothyroidism, and multidirectional urine screening test are described and the results discussed.

[Progress in the early detection of inborn errors of metabolism]. / Postepy we wczesnym rozpoznawaniu genetycznie uwarunkowanych zaburzen metabolicznych.

The aim of present study was to evaluate the effectiveness of screening program for early detection of some metabolic errors in newborn population. The examinations included: early diagnostic of some amino acids and carbohydrates disturbances, cystic fibrosis and congenital hypothyreosis. Guthrie test and multidirectional urine screening test were used for the diagnostics of inborn errors in amino acids metabolism. Guthrie test for phenylalanine proved its high effectiveness and taking into account the relatively high frequency of phenylketonuria in our population this screening has been introduced as obligatory. The evaluation of pilot screening for tyrosinemia, homocystinuria and histidinemia in spite of no objections as to the tests themselves proved low frequency of these disorders in our country, sofar these tests have been abandoned. Multidirectional urine screening carried out in 6-8 weeks old infants allows for follow up control for some aminoacidopathies, and also for the detection of some transport metabolism and other metabolic errors. There is no doubt that screening tests for galactosemia should be carried out because of severe course of the disease and good results of its treatment. Problem to be discussed is the choice of screening procedure and age at which it should be performed. Cystic fibrosis being one of the most common disease in the group of metabolic disorders needs to be screened, because the detection allows for early introduction of complex palliative treatment. The comparative evaluation of three meconium tests for cystic fibrosis revealed dry paper meconium test to be the most useful and following to organize central screening center. Skin chloride system being fast and easy test is too expensive to be introduced as mass screening. Results of pilot screening study for congenital hypothyreosis point out the necessity for the mass diagnostic of this disorders. Choice of the test however is connected with economical aspects of the screening procedure.

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.