Organic acidurias or organic acidemias constitute a group of inherited disorders caused by
deficient activity of specific enzymes of amino acids, carbohydrates or lipids catabolism …

Increasing evidence suggests that patients with L2-HGA have a predisposition to cerebral
neoplasms. This may be related to the pathologic accumulation of L2-HG because high …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis,
and the D and L forms are quantified by chemical ionization with deuterated internal …

Inherited metabolic disorders are the cause of a small but significant number of sudden
unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age …

We report clinical and molecular studies in three unrelated Tunisian families containing
seven patients with L2HGA. Although the age of onset is similar in all these patients at …

l-2-Hydroxyglutaric aciduria (l-2-HGA) is a hereditary neurometabolic disorder reported in
human beings and dogs. An 11-month-old Staffordshire bull terrier was suspected to have …

Sirs, A 31-year-old male with childhood diagnosis of undefined mild learning disability
presented to the neurological services with a 3-week history of rapid cognitive decline …

Most organic acids derive from catabolism of amino acids or fats. Blocks in their metabolic
pathways lead to increased accumulation of the substrate of the deficient enzyme as well as …

The Necessity of Screening of Individuals with Suspected Inherited Metabolic Disorders for
Early Diagnosis and Treatment of Rela Page 1 * ¤wÈw~ ‘≠wì ‚’w Ÿ ‹Èv ‚Ÿw› Á ·ùflô Á ‚≈ûì …