Journal of Pediatric Endocrinology and Metabolism | 2019

Classical galactosemia patients can achieve high IQ scores

 
 
 
 

Abstract


Abstract Very recently, it was reported that a patient with classical galactosemia and a very high intelligence quotient (IQ) score obtained a university degree. In the present study, two siblings with classical galactosemia (homozygous for Q188R mutation) received upper normal IQ scores when tested with psychometric tools. Additionally, the same IQ scores were determined in their healthy brother when tested at the same age. It was concluded that patients could achieve upper normal IQ scores when on diet and followed up closely. Family and especially maternal care may ameliorate the psychomotor development.

Volume 32
Pages 399 - 401
DOI 10.1515/jpem-2018-0515
Language English
Journal Journal of Pediatric Endocrinology and Metabolism

Full Text