Inheritance of alleles at 29 electrophoretically detected protein loci and one pigment locus (albinism) was analyzed in Xenopus laevis by backcrossing multiply heterozygous individuals generated by intersubspecies hybridization. Pairwise linkage tests revealed eight classical linkage groups. These groups have been provisionally numbered from 1 to 8 in an arbitrarily chosen order. Linkage group ...

In this study the data on 115 cases of congenital adrenal hyperplasia (CAH) who were followed in the Pediatric Endocrine Clinic at Nemazee Hospital, Shiraz will be reported. Among these cases 51 were male and 64 female. The most common type of CAH in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. ...

1. 11 beta-Hydroxysteroid dehydrogenase converts cortisol to inactive cortisone in man. In distal renal tubules, this inactivation protects mineralocorticoid receptors from cortisol. Congenital 11 beta-hydroxysteroid dehydrogenase deficiency and inhibition of 11 beta-hydroxysteroid dehydrogenase by liquorice or carbenoxolone result in cortisol-dependent hypokalaemia and hypertension. 2. 11 beta...

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a global problem and the most common cause of jaundice in neonates. Hence, this study was conducted to investigate the prevalence of G6PD deficiency in Jiroft city in southern Kerman. Materials and Methods: This descriptive cross-sectional study was carried out from 2016 to 2019. Blood samples were taken from all patie...

Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical ca...

Patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency are not represented in clinical trials for heart failure. Moreover, many of the recommended medications can cause haemolysis this group patients. We present case a 71-year-old woman G6PD admitted acute non-ischemic failure reduced ejection fraction. Our experience showed that combination ethacrynic acid and spironolactone is safe...

Aluminium Phosphide poisoning and glucose-6-phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose-6-phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis.

A series of curcumin pyrazole derivatives (3a-3e) were investigated for in-vitro hypolipidemic activity. The compounds were screened for the inhibition studies of the enzymes such as pancreatic lipase, glucose 6 phosphate dehydrogenase and malate dehydrogenase which are actively involved in lipid metabolism. Curcumin and all the other compounds in the series showed differential enzyme inhibitor...

Deficiency of pyruvate dehydrogenase [pyruvate:lipoamide 2-oxidoreductase (decarboxylating and acceptor-acetylating), EC 1.2.4.1], the first component of the pyruvate dehydrogenase complex, is associated with lactic acidosis and central nervous system dysfunction. Using both specific antibodies to pyruvate dehydrogenase and cDNAs coding for its two alpha and beta subunits, we characterized pyru...

Only for three of the knowndefects in themetabolismof the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate a...