1/19. Precocious puberty in a patient with indicanuria.A 7-5/12 year-old girl, who was followed-up after diagnosis of indicanuria, presented with symptoms of bilateral breast enlargement. Her breast development was at Tanner stage II. No pubic or axillary hair was observed. Pelvic ultrasonography revealed multiple follicles on both ovaries. Basic endocrinological evaluation and cranial magnetic resonance imaging (MRI) were normal. The diagnosis of precocious puberty was established with respect to the pubertal response to GnRH stimulation test. Although precocious puberty has been reported associated with some metabolic diseases, this is the first description in a patient with indicanuria. The question of whether precocious puberty in our patient with indicanuria is a coincidence or whether it is related to metabolic changes activating the hypothalamo-pituitary-gonadal axis remains open.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
2/19. Severe late acute allograft rejection in a child after living-related auxiliary partial orthotopic liver transplantation for ornithine transcarbamylase deficiency.Auxiliary liver transplantation (ALT) is known to correct liver-based metabolic disorders. However, it remains unclear whether the presence of a native liver influences the long-term prognosis of ALT for metabolic diseases. We reported on a 4-yr-old girl who had undergone living-related auxiliary partial orthotopic liver transplantation (APOLT) for ornithine transcarbamylase deficiency and experienced severe late acute rejection 18 months after liver transplantation, during weaning of immunosuppressive agents. Results of histological analysis of the graft indicated very severe acute rejection (rejection activity index, 9/9), and computed tomography revealed graft liver atrophy. These observations suggest the possibility that severe rejection might occur in APOLT, especially during weaning of immunosuppression.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
3/19. acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.We encountered a patient with glutaric aciduria type I (GA-I) associated with skin lesions resembling acrodermatitis enteropathica (AE). This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels of essential amino acids, particularly isoleucine, and zinc was confirmed. Supplementation of a high-caloric, protein-rich diet together with zinc, selenium and vitamins led to a prompt improvement of the skin lesions. We assume that in our patient the skin lesions were the result of malnutrition, rather than being primarily associated with the underlying metabolic disease. To our knowledge, no other report is so far available concerning GA-I complicated by skin eruptions.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
4/19. D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should raise the suspicion for metabolic disease, and especially organic acidurias.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
5/19. carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma.valproic acid induced coma is presented in an adult patient without a history of metabolic disease. Liver biopsy revealed a reduction in activity of carbamyl phosphate synthetase-I, an enzyme obligated for transformation of ammonia to urea in the urea cycle. After recovery CT scan follow-up showed marked cerebral atrophy which did not exist prior to the state of coma. risk factors are discussed.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
6/19. Type II hyperprolinemia: a case report.Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age. Laboratory findings revealed elevated levels of proline, glycine, and ornithine in serum and pyrroline-5-carboxylate and hydroxyproline in urine. Cerebral computerized tomography and magnetic resonance imaging were both normal. Electroencephalogram showed a very active epileptic abnormality; partial control of seizures was achieved by two antiepileptics. Increased plasma glycine and ornithine levels are the unique features of our case when compared to the other HP II cases reported in the literature.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
7/19. The ocular abnormalities of blue diaper syndrome.We describe the ocular abnormalities seen in a new metabolic disease which is deficient in the transport of tryptophan. Besides the symptoms and signs reported previously, we have found microconea, hypoplasia of the optic disc and abnormal eye movements in our case--a ten-year-old-boy. The sibling involvement and consaguineous marriage of the parents suggest a recessive heredity.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
8/19. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant. At the time of admission at eight months of age the patient was malnourished, hypotonic and had macrocytic anemia. neonatal screening for hypermethioninemia associated with homocystinuria had been normal. serum vitamin B12 was markedly increased and folate concentration was above normal, as were urinary homocystine and methylmalonic acid. The patient had abnormal brain stem auditory and visual evoked potentials. Fibroblast activity of N5-methyltetrahydrofolate: homocysteine methyltransferase was reduced to approximately 10% of concurrent controls. A course of therapy with hydroxocobalamin resulted in a 90% reduction in excretion of methylmalonic acid and normalization of the evoked potentials. These studies support the efficacy of hydroxocobalamin therapy in this disease, suggest that methylmalonic acid may be the most appropriate metabolite to monitor for therapeutic response, and in importance of electrophysiologic studies in character in objectively monitoring the response to treatment metabolic disease.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
9/19. Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma.The clinical history before transplantation and subsequent clinical and biochemical course of 3 children and one adult with hereditary tyrosinemia treated by orthotopic hepatic transplantation is described. All four patients are now free of their previous dietary restrictions and appear to be cured of both their metabolic disease and their hepatic neoplasm.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
10/19. amino acids labelled with 11C as indicator of the effect of dietary treatment of hyperammonaemia.Short-lived radioactive carbon, 11C, (T 1/2 = 20 min) was incorporated into an essential amino acid [11C-methyl] -L-methionine, to form a true biological amino acid tracer with external detectability. This was tested in a study of the physiological tracer dynamics in a hyperammonaemic patient before and after a change in the dietary treatment. The protein intake was unchanged between the two investigations but the energy intake was increased from 53 to 63 kcal/kg BW/day. The tracer radioactivity was given per os. In the second investigation a relative decrease of radioactivity in the low molecular weight fraction of blood plasma was seen. Also the external measurements indicated a higher hepatic retention of radioactivity in the second investigation but no increased excretion of tracer. This may reflect an increased ability of the liver to utilize the incoming methionine from the vena porta. The hyperammonaemia remained over the second investigation but seven months later the ammonia content in the blood was almost normalized and the patient had also gained 3 kg in weight. The correlation between changes in tracer dynamics and changes in therapeutical effect of the diet is not further verified in this experiment but the investigation indicates the value of further studies in this topic using 11C-labelled amino acids also including the use of the newly introduced positron tomographic technique. It may be possible to develop this type of nuclide technique further to achieve a clinically useful method of optimizing therapeutic regiments in this type of metabolic disease.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
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