Classical galactosemia patients can achieve high IQ scores
-
Konstantinos Iakovou
,
Yannis Dotsikas
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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Articles in the same Issue
- Frontmatter
- Review
- The importance of anthropological methods in the diagnosis of rare diseases
- Original Articles
- PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
- Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
- Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
- Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
- Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
- Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
- Adrenal function of extremely premature infants in the first 5 days after birth
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- The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
- Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
- Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
- Short Communication
- Classical galactosemia patients can achieve high IQ scores
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- Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
- MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
- A case report and literature review of monoallelic mutation of GHR
- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
