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High cognitive outcome in an adolescent with mut- methylmalonic acidemia
L Varvogli1, G M Repetto, S E Waisbren
1Division of Genetics, Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
American Journal of Medical Genetics
|July 14, 2000
Summary
Methylmalonic acidemia (MMA) can present with varying cognitive outcomes. Even with moderate biochemical severity and ketoacidosis, some individuals with the mut(-) form of MMA may achieve gifted intellectual status.
Area of Science:
- Biochemistry
- Genetics
- Neurodevelopmental Disorders
Background:
- Methylmalonic acidemia (MMA) is an inherited metabolic disorder.
- The mut(-) form of MMA is typically associated with mild to moderate cognitive deficits.
Observation:
- A longitudinal study assessed a girl with symptomatic mut(-) MMA and recurrent ketoacidosis.
- Biochemical abnormalities were in the moderately severe range.
Findings:
- At nearly 12 years old, she achieved a full-scale IQ of 129.
- She scored above the 99th percentile on the National Achievement Test, indicating giftedness.
Implications:
- The cognitive spectrum in mut(-) MMA is broader than previously documented.
- Moderate biochemical severity and ketoacidotic episodes do not always lead to cognitive impairment.