Search PubMed⌕ Search

Biomedical subjects

V Kunová

Publications and source records attributed to V Kunová.

At least 19 recordsLinked to original sources
PubMed1987

A ten-year follow-up study of urinary screening for inherited metabolic disorders.

Urine samples of 200,000 sucklings in 6th-8th month after delivery was analyzed by means of chromatographic screening test for amino acids, sugars and muccopolysacharides. In 1.4% of them persistent and in 51.6% transitory hyperaminoacidurias, in 0.15% persistent and 12.5% transitory melliturias and in 0.05% alcaptonuria were detected. No one case of muccopolysacharidosis was detected. 239 persistent metabolic disorders were detected. These disorders were not possible to detect by means of an obligatory screening test performed on 5th-6th day after delivery from capillary blood. All positive detected cases were verified by detailed metabolic investigation (thin layer, liquid and gas-chromatography).

Alkaptonuria↗
PubMed1977

Results of phenylalanine tolerance tests and EEG examination in patients under treatment for phenylketonuria.

The EEG of 10 phenylketonuric children treated by a diet and of 4 children with hyperphenylalaninaemia on a normal diet was recorded during L-phenylalanine tolerance tests. The first recording was made before administering the L-phenylalanine load (100 mg/kg b.w.) and the second 60-120 min after. In 6 of the phenylketonuric children, nonspecific abnormality became more pronounced or increased, or previously absent epileptic graphoelements appeared. A pathological EEG response to a L-phenylalanine load was found in 1 child with hyperphenylalaninaemia. The authors do not recommend relaxation of the diet in children with a pathological EEG response to a L-phenylalanine load.

Adult↗
PubMed1977

Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis.

The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Hypertyrosinaemia.

Screening tests of tyrosine levels in the newborn population showed that an elevated blood tyrosine level is the second commonest, and diagnostically the most serious, problem of neonatal age. Almost 1% of all newborn infants have a raised tyrosine level. The classic form of tyrosinosis and secondary hypertyrosinaemia in particular must be differentiated from benign, transitory forms. Methods for a differential diagnosis after loading the organism with ascorbic acid, pyridoxine or folic acid have been described. L-tyrosine tolerance tests proved ineffective. The results of the dietary treatment of transitory and classic forms of hypertyrosinaemia, using phenylalanine- and tyrosine-free hydrolysates, are described. The incidence of these diseases at different ages is shown in a table. Study of psychomotric development shows that untreated children do not display a subnormal IQ until they are of pre-school or school age.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Hyperglycinaemia without ketosis.

When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.

Amino Acid Metabolism, Inborn Errors↗