Search PubMed⌕ Search

Biomedical subjects

J Hoza

Publications and source records attributed to J Hoza.

At least 55 records · Page 3Linked to original sources
PubMed1980

Results of screening for phenylalanine and other amino acid disturbances among pregnant women.

Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.

Adult↗
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

Primary cystathioninuria in an infant born out of incest.

In a systematic examination of children from incestuous unions by screening tests for congenital disorders of amino acid metabolism, we found an infant with raised urinary excretion of cystathionine, cystine derivatives and isulphides and serious psychomotor retardation. The serum cystathionine and disulphide level was found to be elevated. A tolerance test with methionine and vitamin B12 and tests of other metabolites in the blood and urine confirmed the diagnosis of primary cystathioninuria, the first recorded case in the Czechoslovak population. A differential diagnosis against all the other known congenital metabolic disorders involving the sulphurated amino acids was carried out.

Amino Acid Metabolism, Inborn Errors↗