Leyla Tümer

Bone mineral density in childhood obesity.

There are several metabolic and hormonal disturbances in childhood obesity. The purpose of this study was to determine the relationship between childhood obesity and bone mineral density (BMD). We studied BMD in 37 obese children and in 37 non-obese children. BMD was measured at L2-L4 level by using dual energy X-ray absorptiometry. BMD was significantly related to age, height and weight. The mean BMD in the obese children and control group was 0.655 +/- 0.175 and 0.626 +/- 0.159 g/cm2, respectively, without any statistically significant difference (p>0.05). There was no correlation between BMD values and osteocalcin or calcitonin levels. According to Tanners pubertal staging, the mean BMD of pubertal obese children was higher than that of prepubertal obese children. BMD of the pubertal obese children was significantly higher than that of the pubertal control group (p<0.05). Girls had higher mean BMD values than boys. In conclusion, our results show that BMD is not influenced by obesity in children but higher values in puberty were observed in obese children which may due to hormonal changes.

Frequency of vitamin D insufficiency in healthy children between 1 and 16 years of age in Turkey.

Background:  The aim of this study was to establish the frequencies of vitamin D deficiency and insufficiency among healthy children aged 1–16 years and also to determine the factors affecting the levels of vitamin D in Turkey.

Endomysium antibodies in the diagnosis of celiac disease in short-statured children with no gastrointestinal symptoms.

Background : Endomysium antibodies (EmAb) are strongly associated with untreated celiac disease and are suggested to be diagnostic. The aim of the present study was to assess the value of anti‐EmAb for celiac disease screening in children with short stature.

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as propionic, methylmalonic, and isovaleric acidemias. Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase. Oral carglumic acid (N-carbamylglutamate) administration can correct hyperammonemia in neonates with propionic and methylmalonic acidemias, thus avoiding dialysis therapy. Isovaleric acidemia is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase. For the first time, we report a neonate with isovaleric acidemia, whose plasma ammonia concentration dropped dramatically after one oral load of carglumic acid. This experience suggests that carglumic acid could be considered for acute hyperammonemia resulting from isovaleric acidemia. However, trials with more patients are needed.

SRD5A3-CDG: A patient with a novel mutation

Congenital disorders of glycosylation (CDG) are genetic diseases with an extremely broad spectrum of clinical presentations due to defective glycosylation of glycoproteins and glycolipids. Some 45 CDG types have been reported since the first clinical description in 1980. Protein glycosylation disorders are defects in protein N- and/or O-glycosylation. Dolichol phosphate is the carrier of the N-glycan during their assembly first at the outside and subsequently at the inside of the endoplasmic reticulum (ER) membrane, and hence is a key molecule in protein glycosylation. Recently, defects have been identified in the last three steps of the dolichol phosphate biosynthesis: dolicholkinase deficiency (DK1-CDG), steroid 5alpha-reductase type 3 deficiency (SRD5A3-CDG), and dehydrodolichyl diphosphate synthase deficiency (DHDDS-CDG). We report on a patient with SRD5A3-CDG carrying a novel (homozygous) mutation. The diagnostic features of this novel inborn error of glycosylation are psychomotor retardation, nystagmus, visual impairment due to variable eye malformations, cerebellar abnormalities/ataxia, and often ichthyosiform skin lesions.

EFFECTS OF ORAL GLUTAMINE SUPPLEMENTATION ON CHILDREN WITH SOLID TUMORS RECEIVING CHEMOTHERAPY

In recent years, there have been reports that glutamine support improves immune functions in adult patients with malignancy, but there is a lack of data in children. Oral glutamine support of 4 g/m2/day was given to 21 children with various solid tumors, aged 1–17 years (9.86 ± 5.38) for all 5 days of a chemotherapy course. The same parameters in another course of the same protocol without glutamine supplementation were considered as controls. There were significant improvements of some nutritional and immunological parameters in the glutamine-supplemented course. Also glutamine seemed to reduce antibiotic necessity. Oral glutamine supplementation could be considered in children with solid tumors receiving chemotherapy.

Bone mineral density and metabolism in children treated with L-thyroxine.

It has been suggested that long term treatment with L-thyroxine could reduced bone mineral density (BMD). The purpose of this study was to determine whether BMD is decreased by L-thyroxine treatment in children. Dual energy X-ray absorptiometry (DEXA) was used to assess lumbar spine (L2-4) and femur neck BMD in 40 children aged 9-15 years, taking L-thyroxine (100 micrograms/m2/day) for a mean period of 1.45 +/- 0.60 years for colloid diffuse goiter. Patients were matched with controls for age, sex, weight, height and pubertal stage. BMD at both the femur neck and lumbar spine was not significantly different from that of the control group. No correlation was found between BMD values and TSH levels which is the index of tissue hyperthyroidism. BMD was also not correlated with duration of the therapy. Osteocalcin, alkaline phosphatase, calcitonin and parathormone levels were measured to asses bone turnover; none of them were significantly different from those of controls and they did not change during follow up. In conclusion we suggest that long-term L-thyroxine therapy in children has no adverse effect on BMD.

A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition

Abstract Total parenteral nutrition (TPN) is a revolution in neonatal intensive care unit (NICU) care, but this therapy is not without problems. A 35-week-old, 1300 g female infant was transferred to our NICU because of bilious vomiting and feeding problems. When enteral feeding was started again, a severe condition similar to the previous one developed. On the 24th day, the patient underwent surgery with a diagnosis of Hirschprung’s disease. One week before surgery, the parenteral solutions were composed without vitamins because intravenous vitamin supplements suitable for infants were not available. Thereafter, the patient suffered from severe hypoglycaemia, and sepsis started to develop, accompanied by a large anion gap and metabolic acidosis which is severe lactic acidosis refractory to massive doses of bicarbonate. The acidosis improved significantly when the patient was treated with thiamin. Although TPN is life saving in the NICU, meticulous attention must be paid while treating a patient with TPN, and all possible nutrients should be provided. In this report, a case of a preterm newborn requiring a prolonged period of TPN and complicated by serious lactic acidosis is presented and discussed.

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.

A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who was the index patient, was admitted to the hospital with atonic seizure. His brother had delayed language development and their uncle had been followed with diagnosis of epilepsy for the last 5 years. Urinary organic acid analysis displayed elevated 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, analysis of acylcarnitines showed elevated 3-hydroxyisovalerylcarnitine and decreased free carnitine levels in both the patients and their uncle. Methylcrotonyl-CoA carboxylase activity in cultured fibroblasts displayed a low residual activity of 2.2% of the median control value while propionyl-CoA carboxylase activity was normal in the index patient. Mutation analysis revealed a large homozygous deletion of 2264 bp (c.873+4524_6787de12264) in the MCCA gene, which has not been described to date. Adult-onset afebrile seizures have not been reported in the literature. Our cases are an example of this wide phenotypic variability within a single family.

The co-existence of Fabry and celiac diseases: a case report.

We present a patient with Fabry disease with remarkable diagnostic findings and gluten-sensitive enteropathy. An 11-year-old girl was admitted to hospital with weight loss, anorexia, nausea, vomiting, flank pain, acroparesthesia, and painful extremities. Her mother had end-stage renal failure secondary to Fabry disease. On physical examination, she had growth retardation. Ophthalmological examination showed characteristic whorl-like corneal opacities and Fabry disease was confirmed with low α-galactosidase A (α-gal A) activity. Her painful attacks were treated with carbamazepine, but vomiting and nausea continued. Laboratory studies revealed positive serum anti-endomysium and anti-gliadin antibodies. Small intestinal biopsy showed subtotal villous atrophy compatible with gluten-sensitive enteropathy. Following treatment with a gluten-free diet, her gastrointestinal symptoms completely disappeared within a few weeks and then she had catch-up growth. In her long-term follow-up, proteinuria appeared and renal involvement was confirmed by characteristic renal biopsy findings. Following these clinicopathological findings, enzyme replacement therapy was started. In conclusion, although heterozygous females can be asymptomatic or are expected to have a mild course of the disease, a severe clinical course in our patient in the 2nd decade is of particular interest. In addition, Fabry disease occurring with gluten-sensitive enteropathy, a very rare co-existence, is emphasized.