Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...

Gamma-hydroxybutyric acid (GHB) and its liquid precursor gamma-butyrolactone (GBL) have become increasingly popular beyond the clubbing culture resulting in daily consumption and dependence in the broader population. This case report illustrates the challenges of managing GHB-withdrawal and a possibly superior future approach of its management by titration and tapering of the addictive agent.

how to cite this article: ashrafi mr, nikkhah a, houshmand m, aryani o. l-2-hydroxyglutaric aciduria is a diagnostic indicator of leukodystrophy: a casereport iranian journal of child neurology 2011;5(4):37-38.   l-2-hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder.it is characterized by slow progressive neurological dysfunction with cerebellar ataxia, py...

Microparticles made from degradable polyhydroxyalkanoates of different chemical compositions a homopolymer of 3-hydroxybutyric acid, copolymers of 3-hydroxybutyric and 4-hydroxybutyric acids (P3HB/4HB), 3-hydroxybutyric and 3-hydroxyvaleric acids (P3HB/3HV), 3-hydroxybutyric and 3-hydroxyhexanoic acids (P3HB/3HHx) were prepared using the solvent evaporation technique, from double emulsions. The...

INTRODUCTION To raise awareness among health care workers of the risk of withdrawal symptoms after longstanding and intense abuse of gamma-hydroxybutyric acid. CASE PRESENTATION A 23 year old Caucasian woman presented with gamma-hydroxybutyric addiction and withdrawal syndrome. The symptoms of gamma-hydroxybutyric withdrawal in this patient initially went unrecognized, upon which her situatio...

1,4-Butanediol is an industrial chemical used in the manufacture of other organic chemicals. It was nominated by the National Cancer Institute and selected for evaluation by the NTP because of high production volume, the potential for worker exposure, the lack of adequate toxicological characterization, and the lack of evaluation for carcinogenic potential. As documented in the scientific liter...

A dvances in pharmacology often result from identifying the mechanism of action of drugs found empirically to be biologically active (1). γ-Hydroxybutyric acid (GHB), also known as Fantasy, is a centrally active agent that has been used clinically and recreationally for nearly half a century. Because of its history of abuse, its availability is tightly regulated, although it is prescribed for t...