Concentrations of organic acids in cerebrospinal fluid (CSF) appear to be directly dependent
upon their rate of production in the brain. There is evidence that the net release of short …

Routine screening for organic acids revealed increased and isolated urinary excretion of l‐2‐
hydroxyglutaric acid in 8 mentally retarded patients from five unrelated families, including …

The results of CT and/or MRI of the brain in 107 patients with different types of organic
acidemia are presented. The CSF spaces were wide in more than two-thirds of the patients …

Neurological manifestations are very common and can be the leading and/or presenting
feature in organic acid disorders, sometimes in the absence of metabolic derangement …

White matter abnormalities (including dys-, hypo-, demyelination and delayed myelation) are
frequently found in cerebral organic acid disorders, a recently delineated subgroup of …

In two siblings with dystonic cerebral palsy the urinary metabolic profiles of organic acids
were dominated by glutaric acid, a metabolite not normally present in urine. The excretion of …

The blood–brain barrier (BBB) metabolically isolates the central nervous system (CNS) from
the circulation and protects it against fluctuations of hydrophilic nutrients in plasma and from …

Organic acidemias are disorders of intermediary metabolism that lead to accumulation of
organic acids in biologic fluids, disturb acid-base balance, and derange intracellular …

Abstract d‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable
clinical symptoms, creating doubt about the existence of a disease entity related to the …

Summary l-2-Hydroxyglutaric aciduria is a rare organic aciduria associated with
neurological and particularly cerebellar abnormalities. These abnormalities developed in …