[A rare metabolic disease: alkaptonuria--ochronosis].

The authors describe the case of a 40-year-old female patient. Since childhood her urine had caused black discoloration on her underwear. For about a year the skin of the axillae and pinnae had been bluish-black without subjective complaints.

[Glycosylated proteins, blood sugar levels and postnatal growth in very low birth weight (less than 1500 g) neonates].

The concentration of HbA1c, glycosilated serum proteins and blood glucose were followed up during the first eight postnatal weeks in 10 preterm babies of mean (+/- SD) birthweight and gestational age of 1259 +/- 140 g and 30.2 +/- 2.0 weeks, respectively.

[Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].

Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture.

[Alkaptonuria-ochronosis].

The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year, without subjective complaints, blue-black color of the skin involved the axillae and pinnae.

Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations.

Authors report on a Bicarnesine replacement therapy in an infant girl patient suffering from carnitine deficient myopathy diagnosed at 1 year of age. The hypotonic patient's motoric functions improved and she became able to walk as a result of therapy applied, but the pathological process generalized to encephalomyopathy. Free and esterified carnitine were determined from the serum and muscle biopsymaterial.

[Lipid- and lipoprotein-cholesterol levels in the first 8 months of low-weight (less than or equal to 1500 g) premature infants].

Lipid levels were determined in 30 low birthweight (less than or equal to 1500 g) preterm infants (birthweight: 1122 +/- 192 g, gestational age: 29,0 +/- 1,7 weeks, mean +/- SD) on the 1st, 14th, 28th, 42nd and 56th days of life. Triglyceride and cholesterol were measured by a Boehringer kit, while HDL-cholesterol and its subfractions by microprecipitation methods. Both triglyceride and cholesterol levels increased significantly from the 1st to the 14th and from the 14th to the 28th days.

Decreased urinary excretion of dopamine and sodium in diabetic children with incipient nephropathy.

It has been suggested previously that a decrease in urinary dopamine output might be related to a decrease in the urinary sodium excretion in subjects with diabetic nephropathy suffering from type 2 diabetes. To investigate the renal dopamine status in children with type 1 (insulin-dependent) diabetes mellitus, we measured the 24-hour urinary excretion of dopamine, norepinephrine and sodium in 12 patients with incipient nephropathy (group A, 24-hour albumin excretion rate 70-200 micrograms/min), in 20 age matched patients with normal microalbuminuria (group B, AER less than 20 micrograms/min) and in 8 healthy controls (group C). The mean values for urinary excretion of dopamine and norepinephrine were significantly lower in group A compared to groups B and C (25.

Biochemical and ultrastructural diagnostic problems in mucolipidoses.

Biochemical and ultrastructural investigations were made in 2 children suffering from mucolipidosis type III. Among the lysosomal hydrolases the activity of beta-galactosidase and alfa-fucosidase diminished in the homogenate of the peripheral leukocytes in case I. The activity of serum and leukocyte arylsulfatase was normal.

[Glucosylated proteins and perinatal growth].

The concentration of HbA1c and glycosylated serum proteins were measured colorimetrically in 30 and 29 newborn infants of various gestational age, at the postnatal age of 0-24 hrs and 19-23 days, respectively. No relationship was found either between the maturity and the prenatal and early postnatal growth of the studied infants or the concentration of glycosylated haemoglobin and serum proteins.

Lipid levels in very low birthweight preterm infants.

Free fatty acid (FFA), triglyceride (TG),total cholesterol (T-C), VLDL + LDL-C, HDL-C and its subfractions were determined in 18 very low birthweight (birthweight: 1064 +/- 179 g; gestational age: 28.7 +/- 1.6 weeks, mean +/- SD) preterm infants on postnatal days 1, 14, 28, 42 and 56 (data are given in mmol/l).

Specific enzymatic diagnosis and ultrastructural analysis of peripheral leukocytes in infantile form of Niemann-Pick sphingomyelinosis.

Acute infantile type of Niemann-Pick sphingomyelin lipidosis has been published concentrating to the morphological and biochemical specific enzyme investigations. The electronmicroscopical study of the peripheral lymphocytes proved to be of diagnostic value for lysosomal lipidoses.

[Hereditary pancreatitis].

Attention is drawn to the possible genetic origin of pancreatitis infrequent in childhood. In the case of the authors the diagnosis was supported in the absence of external pathogenic factors by characteristic amino acid excretion which was demonstrable with 8 of the 11 members examined in the family. Genetic relationship is supposed to exist between hereditary pancreatitis and cystin-lysin excretion.

Connective tissue metabolism in children with chronic renal failure.

To assess the characteristics of connective tissue metabolism in chronic renal failure (CRF), urinary excretion of glycosaminoglycan (GAG) fractions and hydroxyproline (HYP) was determined in ten patients with CRF and in ten age-matched healthy children. CRF was found to be associated with elevated free HYP (19.9 +/- 6.

The metabolic and hormonal effects of continuous subcutaneous insulin infusion therapy in diabetic children.

To find out whether the concurrent metabolic and hormonal abnormalities are corrected when normoglycaemia is achieved, two groups of diabetic children (newly-diagnosed and chronically-treated) were treated with insulin pumps. Fasting levels of metabolites, lipids and hormones were measured before and after 8 to 10 days of pump treatment and the immediate postprandial hormonal and metabolic changes after a test-meal were also measured. Restoration of normoglycaemia was accompanied by correction of multiple metabolic abnormalities including the normalisation of fasting plasma free insulin, growth hormone, free fatty acid, triglyceride and total cholesterol levels.

Perinatal hypoxia and hepatic cell function in preterm and full term newborn infants.

Gamma-glutamyl transpeptidase activity and the serum concentration of lipoprotein-x, indirect bilirubin and total bile acids were measured in 28 preterm and 24 full term newborn infants, with or without hypoxia, at the postnatal age 3-4 days. Those preterm and full term babies who suffered from hypoxia had increased mean lipoprotein-x, bilirubin, total bile acid concentration and gamma-glutamyl transpeptidase activity in comparison to that of controls, but the differences were not significant statistically. Clinical implications of the results are briefly discussed.

Serum lipid and lipoprotein-cholesterol values in cord blood and on the sixth postnatal day in newborns of varying maturity.

Triglyceride, total cholesterol, phospholipid, HDL-cholesterol, VLDL-cholesterol and LDL-cholesterol concentrations were studied in 22 eutrophic, 16 true premature and 22 small-for-gestational age neonates in cord blood and on the 6th postnatal day. According to the findings the lipid-lipoprotein metabolism was influenced primarily by gestational age. Parallel with increasing gestational age, phospholipid and triglyceride concentrations rose whereas cholesterol values decreased.

Urinary 3-methylhistidine and urinary 3-methylhistidine/creatinine ratio in Duchenne-muscular dystrophy in hemizygotes and in gene-carriers.

The informative value of urinary 3-methylhistidine excretion and urinary 3-methylhistidine/creatinine ratio was investigated in DMD hemizygote male children (n = 13) and in gene-carrier mothers. A significant increase of the urinary 3-methylhistidine/creatinine ratio was found in DMD hemizygotes. There was no significant correlation between serum CK and the clinical stages of DMD and the above mentioned laboratory parameters.

Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship.

Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods of enzyme determination using various substrates are recommended for the detection of the gene carrier condition.