Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month...

clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...

The reported catalytic system demonstrates the possibility of efficient mass production of 3-hydroxybutyric acid (3-HBA) from inexpensive raw materials. The direct coupling of propylene oxide, water, and CO was catalyzed by 1-butyl-3-methylimidazolium cobalt tetracarbonyl ([Bmim][Co(CO)4]) ionic liquid to form 3-HBA with >99% conversion (49% selectivity) under mild conditions.

An uncommon autosomal recessive organic acid disease is malonic aciduria. This may be easily identified and included in the NBS programmes by means of widespread use tandem mass spectrometry’s study amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported first screened diagnosed with aciduria screening (NBS) early neonatal period. The pat...

Argininosuccinic aciduria is a urea cycle disorder caused by an argininosuccinate lyase enzyme deficiency that ends with nitrogen accumulation as ammonia. Argininosuccinic aciduria patients are at risk for long-term complications including poor neurocognitive outcome, hepatic disease, and systemic hypertension despite strict pharmacologic and dietary therapy. As the liver is the principle site ...

INTRODUCTION Gamma-hydroxybutyric-acid is a potentially addictive drug known for its use in "rave" parties. Users have described heightened sexual drive, sensuality and emotional warmth. Its euphoric, sedative and anxiolytic-like properties are also sought by frequent users. Abrupt gamma-hydroxybutyric-acid withdrawal can rapidly cause tremor, autonomic dysfunction and anxiety, and may later cu...

2003;21:401–7. 6. Ensenauer R, Muller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. J Inherit Metab Dis 2000;23:341–4. 7. Hou JW, Wang TR. 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. J Inherit Metab Dis 1995;18:645–6. 8. Jooste S, Erasmus E, Mienie LJ, de Wet W...

The titled compound was prepared by condensation of 3'-deoxyparomamine derivative (5) with 2,3-O-bis(p-nitrobenzoyl)-5-O-tosyl-D-xylofuranosyl bromide followed by 1-N-acylation with the active ester of (S)-4-benzyloxycarbonylamino-2-hydroxybutyric acid. The compound was slightly more active than 3'-deoxybutirosin A against Pseudomonas.