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Biomedical subjects

H Lubs

Publications and source records attributed to H Lubs.

At least 37 records · Page 2Linked to original sources
PubMed1983

[Homocystinuria].

It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms. While homocystin in the blood plasma and the urine could be proved only in the patient, the concentration of plasma methionine was much increased also in the clinically completely inconspicuous sister.

Adult↗
PubMed1983

Changes of the plasma tryptophan to neutral amino acids ratio in formula-fed infants: possible effects on brain development.

The ratio of plasma concentrations of tryptophan to the sum of neutral amino acids (valine, isoleucine, leucine, phenylalanine and tyrosine) was found to be significantly lower in formula-fed infants as compared to breast-fed infants and to newborns at birth. This tryptophan to neutral amino acids ratio in the blood is thought to control the synthesis of serotonin in the brain. Serotonin deficiency in the developing brain based on a decreased plasma tryptophan to neutral amino acids ratio may contribute to developmental obesity and/or permanent changes of mental capacity and social adaptability as observed in human subjects who had been formula-fed as compared to those who had been breast-fed in neonatal life.

Amino Acids↗
PubMed1977

[Results of oral methionine loads in normal subjects and patients with liver diseases using an analyzer short program].

Control subjects and patients with liver diseases (cirrhosis, fatty liver) were given an oral methionine load with 100 mg L-Met/kg body weight. Amino acid chromatography was made by a short-program particularly suitable for the diagnosis of hereditary disorders of methionine metabolism. Met-tolerance in blood plasma as well as cystathionine, homocystine and the mixed disulfide homocysteine-cysteine in plasma and urine were investigated. Methylmalonic acid excretion in the urine was determined by gas chromatography. Patients with liver diseases showed some pathological changes of methionine tolerance after the load. However, cystathionine and homocysteine could not be demonstrated. No methylmalonic acid excretion occurred in normal subjects and patients with liver diseases after the methionine load.

Adolescent↗
PubMed1975

[Prenatal brain damage in maternal, untreated phenylketonuria].

Several reports in literature exist about mentally retarded non-phenylketonuric offspring from untreated phenylketonuric mothers with normal intelligence. One additional case is added who was detected after screening of about 1600 pregnant women. Biochemical investigations of the mother identified her as "classical phenylketonuria". Column chromatographic analysis of amino acids in amniotic fluid revealed a very high pheylalanine level and the diminution of the other, especially essential amino acids. The estimated amino acids in fetal brain also revealed a very high phenylalanine level. Routine screening for phenylketonuria by means of the Guthrie's test is recommended for all pregnant women at the first visit of the counseling.

Amino Acids↗
PubMed1975

[Histidine tolerance in low skin histidase activity].

An oral histidine loading test (100 mg L-His/kg body weight) was performed in 8 deaf patients with low histidase activity in the str. corneum of the skin. Beside an elevated plasma phenylalanine level resulting in a Phe/Tyr-quotient of 1,09 +/- 0,15 the basal level of histidine was slightly enhanced in patients with deafness, but without statistical significance. After histidine loading no differences of the histidine tolerance curves could be observed suggesting the heterozygosity state for histidinaemia. Thin-layer chromatographic investigation of imidazole compounds revealed some abnormal findings after loading. The results are discussed with regard to the clinical and biochemical heterogeneity of histidinaemia.

Adolescent↗