โ Scribed by Varvogli, Liza; Repetto, Gabriela M.; Waisbren, Susan E.; Levy, Harvey L.
No coin nor oath required. For personal study only.
Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation. The less severe mut -form of the disorder, however, has been described with only mild to moderate cognitive deficits or, rarely, with normal neurodevelopment in asymptomatic cases. Nevertheless, there has been no detailed documentation of long-term neuropsychological function in the mut ุ form and relatively few IQ scores. We performed longitudinal developmental and neuropsychological assessments on a girl with symptomatic mut -methylmalonic acidemia whose biochemical abnormalities were in the moderately severe range and who had had recurrent episodes of ketoacidosis. At almost 12 years of age, her full scale IQ on the Wechsler Intelligence Scale, third edition, was 129 with very superior and superior scores on nonverbal and verbal skills, respectively. On the National Achievement Test she scored above the 99th percentile in the Basic Battery and is considered to be a gifted student. This outcome suggests that the spectrum of cognitive attainment in mut -methylmalonic acidemia is wide and that even a moderate degree of biochemical severity with ketoacidotic episodes may not result in cognitive deficit.
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### About the Author Christina Dodd is a New York Times bestselling author whose novels have been translated into twelve languages, featured by Doubleday Book Clubยฎ, recorded on books on tape for the blind, given Romance Writers of Americaโs prestigious Golden Heart and RITA Awards, called the year