Atypical MR lenticular signal change in infantile isovaleric acidemia

Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia

Dear Editor, Isovaleric acidemia (IVA) is a rare branched-chain organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Acute and chronic intermittent forms of IVA have been described. The acute form typically present during the neonatal period with acute encephalopathy, vomiting, dehydration, and severe metabolic acidosis. The chronic intemittent form is characterized by p...

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

BACKGROUND Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the neurological and neurocognitive outcomes of patients diagnosed with IVA following clinical manife...

Dietary practices in isovaleric acidemia: A European survey

BACKGROUND In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS A cross-sectional questionnaire was sent to all European dietitians who were either memb...

Rapid Publication L - Carfitine Therapy in Isovaleric Acidemia

Isovaleric acidemia, resulting from isovaleryl-coenzyme A dehydrogenase deficiency, is associated with marked reduction of free carnitine in both plasma and urine. Fast atom bombardment-mass spectrometry, hydrolysis, and gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine, a new metabolite specific for this disorder. Administration ofequimolar...

No evidence of isovalthinuria in isovaleric acidemia-- brief note.