Riboflavin Responsive Multiple Acyl‐CoA Dehydrogenation Deficiency

Abstract

A boy with riboflavin-responsive beta-oxidation deficiency (multiple acyl-CoA dehydrogenation deficiency) was assessed clinically and biochemically after 3 years of continuous riboflavin medication. He was diagnosed at the age of three years after an attack of a Reye's syndrome-like disease. During the 3 years of assessment he has experienced no serious disease; although short episodes of fatigue and loss of appetite have been noted. His mental and physical development has been normal. Biochemically the abnormal excretion of organic acid metabolites, characteristic of the acyl-CoA dehydrogenation deficiency, has been continuously present. Quantitatively there has been a trend to a more simple picture with ethylmalonic acid as the predominant metabolite. However, because of the large within-day variation in the excretion of all the metabolites, changes following diet and riboflavin trials must be interpreted with caution in these patients.

A behavioral and histological comparison of fluid percussion injury and controlled cortical impact injury to the rat sensorimotor cortex

“…Billerica, MA) stain. [45] Standard protocol was followed. [35, 46] The slides were immersed in a 95% EtOH solution for 3 min, 70% EtOH solution for 3 min, dH 2 0 rinse for 1 min, 0.06% potassium permanganate solution for 10 min under agitation, dH 2 0 rinse for 1 min, 0.004% FJ staining solution for 10 min.…”

A Combination Therapy of Nicotinamide and Progesterone Improves Functional Recovery following Traumatic Brain Injury

“…Billerica, MA) 48 following a standard protocol. 6,7 The tissue went through a rehydration procedure prior to a 0.06% potassium permanganate solution for 10 min under agitation.…”

Riboflavin responsive ethylmalonic‐adipic aciduria in a 9‐month‐old boy with liver cirrhosis, myopathy and encephalopathy

“…Hypotonia, recurrent hypoglycaemia and Reye-like attacks were frequently described, with intermittent organic aciduria. Riboflavin responsiveness was first assessed by Gregersen and colleagues in a 3-yearold boy; three years after the initiation of riboflavin treatment, the patient had had Each result is the mean of triplicate assays + SD, and is compared to normal cells tested in parallel ~5 c5 g ta9 t.~a no metabolic crises and his mental and physical development were normal, but abnormal excretion of organic acids persisted (Gregersen et at., 1986). Several other patients who were apparently riboflavin responsive have been reported (Gregersen, 1985).…”