[A case report of pyridoxine-responsive homocystinuria]. / Slucaj piridoksinresponzivne homocistinurije.

INTRODUCTION: Homocystinuria is a rare, congenital, autosomal-recessive, metabolic disease biochemically characterized by homocysteinemia and homocystinuria and by multi-system clinical disorders. It is a biochemical abnormality of methionine metabolism caused either by transulfuration pathway disorders or by disorders of homocysteine remethilation into methionine and as such it can be a result of numerous specific and different genetic lesions. CASE REPORT: Homocystinuria is most commonly caused by deficiency of cystationine beta synthetase enzyme which catalyses the synthesis of cystathionine from homocysteine and serine in the methinione pathway. This results in accumulation of homocysteine and methionine in plasma and leads to excretion of excessive urinary homocysteine. Depending on specific property of the mutant enzyme molecule some patients respond to very high doses of pyridoxine with decreases of methionine and homocystine and some not. Pyridoxine responsiveness is based on the presence of small residual activity of cystathionine beta synthetase which is not present in nonresponsive patients. Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is characterized by numerous different clinical abnormalities, but changes in four organ systems are dominant (eye, skeletal, central nervous and vascular system). CASE DESCRIPTION: Six years ago a six year-old boy was admitted to the hospital with vision problems. Ophthalmologic examination revealed a lens dislocation and because of many stigmates the child was sent to endocrinologist. The child had a marfanoid stature, with pectus carinatum and genu valgum, ataxic gait with motoric discoordination, muscle tone which ranged from hypotonia to hypertonia of extrapvramidal type and low intellectual abilities. A simple cyanide-nitroprusside test of patient's urine was positive suggesting homocystinuria. The diagnosis was established after plasma and urine amino acid analysis by HPLC. Concentration of homocystine and methionine were 52 mumol/l and 57 mumol/l in plasma and 249 mumol/du and 55 mumol/du in urine, respectively. After four months of treatment with pyridoxine there were not any significant changes in plasma homocysteine and methionine, but at the same time decrease in urine of these two amino acids were more than 2.5 times higher. This confirms that the patient has a pyridoxine-responsive type of homocystinuria and the dose was increased to 60 mg/day and 600 mg/day. This results in further decline of homocysteine and methionine in plasma and urine which persists up to now (for six years).

Predictive value of biological markers in etiopathogenesis of juvenile diabetes--reviewing the role of insulin antibodies.

The lack of complete concordance for diseases in monozygotic twins prevents application of genetic markers for a thorough identification of the subjects who will develop the type I diabetes. Furthermore, the impact of the environmental factors precipitating beta cells destruction in genetically sensitive subjects has not been completely enlightened yet. The identification of high risk markers for the development of diabetes is aimed at detection of the early immune response activation markers. Islet cell antibodies are the most valuable markers, whose presence can be discovered even up to 7-8 years prior to the onset of symptoms. They are found in 50-80% of the newly discovered insulin-dependent diabetics. Their prevalence in the general population is 0.5-2%. These are commonly concomitant with insulin antibodies, found in 20-40% of the newly discovered diabetics, as reported in the literature. In our circumstances it was possible to determine the insulin antibodies only. We have concluded that they appear in 13.6% of children with a newly discovered diabetes, presenting a significant marker for predicting the course of the disease.

[Hypoglycemia in childhood. II. Clinical aspects and therapy of hypoglycemia in childhood]. / Hipoglikemija u decijem uzrastu. Deo II: Klinika i terapija hipoglikemija u decijem uzrastu.

Regardless of age and body weight, hypoglycemia is defined as the glycemia value below 2.6 mmol/l. This is the borderline glycemia value, below which the suffering begins which directly endangers the CNS development in the newborn period. The fact that we registered hypoglycemias in 2/3 of premature infants and in 3/4 of low birth weight infants at registration on the ward for premature infants at the Institute for Mother and Child Health Protection, in the course of 1988, tells of the complexity and seriousness of the situation with which we meet during the depopulation of the inhabitants. The paper gives physiological basics for the understanding of glycose homeostasis in the organism, as the most frequent forms of hypoglycemia with which the physician meets in practice. A diagnosing and hypoglycemia treatment algorithm is given.

[The importance of blood glucose determination in self-monitoring of juvenile diabetes]. / Znacaj odredivanja glikemije u samokontroli secerne bolesti decjeg uzrasta.

In diabetes there is a presence of a severely impaired energetic-metabolic, hormonally influenced, homeostasis; the functioning of the delicate, fine and useful metabolism adjustment on the feedback principal, which means a controlled use of energy for the present and the future, stops. The insulin which is given to diabetes patients subcutaneously has lost this homeostatic feedback feature, in regard to this "elasticity", and brutally intrudes, in other words, dictates the energetic homeostasis, at which insulin excess leads to a deficit of counter-insulin hormones in the blood (which is followed by hypoglycemia) and an insulin deficit leads to their excess (followed by hyperglycemia). Long-term oscillations of glycemias outside the accepted limits (4.5 to 11 mmol/l) are fatal to the diabetes patient-the risk of micro and macro-angiopathies. In the aim of the best possible harmonization of the type and dose of insulin, the interval between injection and meal, the extent of the meal and the level of physical activity in diabetes patients which are being treated with insulin, blood sugar should be determined at the critical points (1 hour before and 1 hr after the three main meals, as well as during the night at about 3 a.m.), and at representative days (at least two times a week). Today, only this form of control, self-monitoring, provides a continuous appropriate glycemia value, and with that a metabolic control which will enable the diabetes patient to be "conditionally healthy" and thus delay es as late as possible or/and prevent the appearance of blood vessel secondary chang.

[The McCune-Albright syndrome with hyperthyroidism, acromegaly and hypophosphatemic-hyperphosphaturic rickets]. / McCune-Albrightov sindrom sa hipertireoidizmom, akromegalijom i hipofosfatemicno-hiperfosfaturicnim rahitisom.

A girl was described with an unusual combination of McCune-Albright's syndrome (polyostotic fibrotic dysplasia, hyperpigmentations on the skin and precocious puberty) with hyperthyroidism, hypophosphatemic-hyperphosphaturic rickets and acromegaly. Although the pathogenetic mechanism involved in the development of this endocrinopathy in this syndrome is not quite clear, the achieved results, as well as data of other researchers, suggest that the endocrinological disorders in this syndrome are the result of either an increased sensitivity of periphery endocrine organs or/and of an autonomous hyperfunction (similar to multiple endocrine adenomatosis).

[Hypoglycemia in childhood. I. Physiology, pathophysiology and the classification of hypoglycemia]. / Hipoglikemija u decijem uzrastu. I deo: Fiziologija, patofiziologija i podela hipoglikemija.

Regardless of age and body mass, hypoglycemia is defined as the glycemia value below 2.6 mmol/l. This is the borderline glycemia value, below which the suffering begins which directly endangers the CNS development in the newborn period. The fact that we registered hypoglycemias in 2/3 of premature infants and in 3/4 of low birth weight infants at registration on the ward for premature infants at the Institute for Mother and Child Health Protection, in the course of 1988, tells of the complexity and seriousness of the situation with which we meet during the depopulation of the inhabitants. The paper gives physiological basics for the understanding of glucose homeostasis in the organism, as the most frequent forms of hypoglycemia with which the physician meets in practice. A diagnosing and hypoglycemia treatment algorithm is given.

[Menarche in schoolgirls in Novi Sad]. / Menarha kod ucenica u Novom Sadu.

Out of 947 examined schoolgirls aged 8.5-15 from the two schools in Novi Sad, 327 of them had menarche. Arithmetic mean value of the appearance of menarche was 12.25 years, the standard deviation being 0.91 years. Median was 12.59 years. The normal appearance of menarche (X +/- 2 SD) ranged from 10.4-14.1 years in our environment. According to X2 (Chi-square) test and asymmetry coefficient (beta 1) it was pointed out that the distribution of menarche in examined schoolgirls was normal and symmetric.

[Determination of 17-alpha-hydroxyprogesterone in the diagnosis of congenital adrenal hyperplasia]. / Odredivanje 17-alfa-hidroksiprogesterona u dijagnostici kongenitalne adrenalne hiperplazije.

On the basis of data from literature and by the use of commercial accessories radioimmunologic method of the determination od 17-alpha-hydroxiprogesteron (17-OHPG) serum level was determined in two variants: a) addition to the previous extraction, b) without extraction. It was initiated in the clinical work for diagnostic of congenital adrenal hyperplasia (CAH) induced by the enzymatic block of C21-hydroxilasis. 17-OHPG level was determined in a group of 15 children aged 2-12 of both sexes not suffering from endocrinous diseases. Mean values od X = 3.2 +/- 2.7 nmol/L and X = 4.3 +/- 3.3 nmol/L were obtained under a) and b), respectively. Also, 17-OHPG concentration was determined in 15 women without any endocrinous diseases by the method under b) and mean value of X = 2.5 +/- 1.7 nmol/L was obtained. 17-OHPG level was determined in a group of 7 children in whom CAH had been verified 3 days after the interruption of the substitutional therapy. According to the results of the investigation it was pointed out that there was a marked increase in 17-OHPG serum level (particularly by the use of b) method) which was far outside the range of reference values. In cases both with 17-OHPG determination and the daily pregnantriol excretion it was noticed that the increase in 17-OHPG was almost always accompanied by the increase in pregnantriol as well. Cortisolemia ranged from normal up to very lowered values.(ABSTRACT TRUNCATED AT 250 WORDS)