[A rare metabolic disease: alkaptonuria--ochronosis]. / Eine seltene Stoffwechselerkrankung: Alkaptonurie--Ochronose.

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. One year before admission, pain in the thoracic and lumbar spine began, with limitation of motion. Examination of the urine, histological and electron microscopical findings, and X-ray examination of the spinal column confirmed the diagnosis of alkaptonuria and congenital ochronosis.

[Glycosylated proteins, blood sugar levels and postnatal growth in very low birth weight (less than 1500 g) neonates]. / Glucosilált proteinek, vércukorszint és postnatalis növekedés igen kis súlyú (less than 1500 g) koraszülöttekben.

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. Both blood glucose and the glucosilation of proteins remained unchanged over the study period. No relationship was found either between growth rate and blood glucose level, or the latter and HbA1c concentration. Statistically significant correlationship could be observed between carbohydrate and total calorie intake and growth rate, but only during the first four postnatal weeks.

[Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy]. / Sandhoff-betegség (Tay-Sachs 0 varians) kizárása chorionbiopszia segítségével.

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. The results of the examinations made possible to advise the patient to carry out the pregnancy. The examinations after delivery confirmed the newborn to be a carrier.

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. After the Bicarnesine-supplementation the serum carnitine fractions elevated.

[Alkaptonuria-ochronosis]. / 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. For a year appeared the increased pain of thoracal and lumbal spine column and the limitation of motion of these parts. The examination of urine, histological and electron microscopical findings, the X-ray photograph of the spinal column confirmed the diagnosis of alkaptonuria or rather congenital ochronosis.

[Lipid- and lipoprotein-cholesterol levels in the first 8 months of low-weight (less than or equal to 1500 g) premature infants]. / Kis súlyú (less than or equal to 1500 g) koraszülöttek lipid-és lipoprotein koleszterin szintjeinek alakulása az élet elsö nyolc hetében.

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. VLDL + LDL-cholesterol level increased significantly by the 14th day, while HDL-cholesterol level by the 28th day. From the 1st to the 14th day the increment of cholesterol levels was significantly higher in breast milk-fed newborns (n = 18) than in those receiving formula (n = 12). Consequently, on the 14th, 28th and 42nd days cholesterol levels were significantly higher in breast milk-fed newborns than in those receiving formula. By the age of two months, however, the difference diminished.

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. By electron microscopy typical storage organellums for mucolipidosis were detected in different biopsy materials--liver, skin, conjunctival ones--and in the cytoplasm of the peripheral lymphocytes and leukocytes. Definitive diagnosis was given by the specific electron microscopic investigations detecting the typical storage patterns for mucolipidosis.

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 (25.6 +/- 14.8 vs. 65.9 +/- 25.5 and 73.3 +/- 18.0 micrograms/day, p less than 0.001 and 11.8 +/- 4.6 vs. 25.1 +/- 12.1 and 28.4 +/- 8.9 micrograms/day, p less than 0.01, respectively). The mean value for the urinary excretion of sodium was also significantly lower in group A than in groups B and C (98.4 +/- 24.1 vs. 206.2 +/- 59.5 and 198.1 +/- 42.8 mEq/day, p less than 0.01). The 24-hour urinary excretion of dopamine correlated significantly with the sodium excretion (r = 0.65, p less than 0.001). Arterial blood pressure was elevated in group A compared to group C (p less than 0.01). Our results suggest that a decrease in endogenous dopamine could play a role in the low urinary sodium excretion thereby resulting in sodium retention which may in turn lead to the development of higher blood pressure in diabetic children with incipient nephropathy.

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). FFA levels remained low throughout the study (day 1: 0.13 +/- 0.09 ... day 28: 0.15 +/- 0.06...day 56: 0.16 +/- 0.06). TG levels increased significantly from day 1 to 14 and from day 14 to 28 (day 1: 0.61 +/- 0.26, day 14: 1.14 +/- 0.28, day 28: 1.70 +/- 0.89), thereafter they remained unchanged. T-C levels increased significantly from day 1 (2.29 +/- 0.83) to day 14 (3.05 +/- 0.71), continued to increase up to day 28 (3.34 +/- 1.58), subsequently decreasing to the level of day 1 (day 56: 2.63 +/- 0.87). More marked alterations were seen in VLDL + LDL-C (day 1: 1.51 +/- 0.70, day 28: 2.32 +/- 1.34, day 56: 1.76 +/- 0.74), whereas in HDL-C it was HDL2-C that changed significantly.

[Glucosylated proteins and perinatal growth]. / Glucosilált proteinek és perinatalis növekedés.

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.

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]. / Oröklödö hasnyálmirigy-gyulladás.

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 +/- 6.1 vs 9.8 +/- 3.6 mumol/day, P less than 0.05) and depressed peptide HYP excretion (33.1 +/- 13.5 vs 225.2 +/- 17.7 mumol/day, P less than 0.01), a low rate of total GAG excretion (7.0 +/- 2.4 vs 16.1 +/- 1.9 mumol uronic acid/day, P less than 0.05) with low chondroitin 4 -sulphate + chondroitin 6 -sulphate (Ch-Ss) (14.0 +/- 9.9 vs 65.0 +/- 22.1%) and a high proportion of non-sulphated or under-sulphated fractions, i.e. hyaluronic acid + chondroitin + heparan sulphate (HA + Ch + HS) (75.3 +/- 11.4 vs 31.5 +/- 5.7%). Urinary 3-methyl-histidine (3-met-HIS) excretion and plasma essential free amino acids did not differ in the two groups. In response to haemodialysis no consistent change occurred in urinary excretion of 3-met-HIS, peptide-bound HYP, total GAG or percentage distribution of individual GAG fractions. After haemodialysis all plasma amino acids decreased significantly, and there was a significant increase in urinary excretion of free HYP (P less than 0.05). We conclude that the alterations in urinary excretion of total and individual GAGs observed in CRF may reflect disturbed connective tissue metabolism which does not appear to be accounted for by protein malnutrition or enhanced protein breakdown and remains uninfluenced by haemodialysis therapy.

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. Plasma glucagon, however, decreased below normal, and significant hypoketonaemia developed in newly-diagnosed diabetic children. The fall in (VLDL + LDL)-cholesterol levels was accompanied by a substantial increase in HDL2-cholesterol concentration in newly-diagnosed diabetic children, whereas pump-treatment resulted in a decrease of the HDL3-cholesterol subfraction in chronically-treated diabetic children. The postprandial blood glucose and free insulin profiles were similar to that of control subjects, but there was an "abnormal" postmeal fall in plasma glucagon and free fatty acid levels. These changes together with the fasting hypoglucagonaemia and hypoketonaemia indirectly suggest that optimal glycaemic control is only achievable at the expense of "increased insulin action" despite the failure to detect peripheral hyperinsulinaemia. Furthermore, the restoration of normoglycaemia and the simultaneous normalisation of the metabolic and endocrine milieu is not entirely possible with this mode of therapy.

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.