Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
-
Mahmut Aslan
,
Serkan Kirik
Abstract
Background
Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). Although MLD is the most common form of hereditary leukoencephalopathy, it is still very rare. More than 200 gene mutations have been identified in the ARSA gene. The most frequently identified mutation is the one located on chromosome 22q13.33. In the present study, new mutations are reported in two siblings of different ages and with different clinical presentations.
Case presentation
A 9-year-old male patient, suffering from ataxia, attention deficit and perceptual difficulties, was first seen at the age of 7. While the findings of neurological examination and neuroradiological evaluation suggested MLD, the ARSA enzyme levels were analyzed and found to be at a lower limit. Genetic analysis revealed variant homozygous mutations of the ARSA gene at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. In the genetic analysis of his three siblings and parents, a variant heterozygous mutation of the ARSA gene was detected at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7.
Conclusions
MLD is a rare disease; however, it is likely to find different variant forms in our population, in which the frequency of consanguineous marriages is high. Genetic diagnosis is important in symptomatic cases with enzyme levels within the normal ranges.
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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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Intracranial pathologies associated with central diabetes insipidus in infants
- Omentin-1 and NAMPT serum concentrations are higher and CK-18 levels are lower in children and adolescents with type 1 diabetes when compared to healthy age, sex and BMI matched controls
- Evaluation of anthropometric parameters of central obesity in Pakistani children aged 5–12 years, using receiver operating characteristic (ROC) analysis
- A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients
- Untreated congenital hypothyroidism due to loss to follow-up: developing preventive strategies through quality improvement
- The effect of 17 years of increased salt iodization on the prevalence and nature of goiter in Croatian schoolchildren
- Is there an association between thyrotropin levels within the normal range and birth growth parameters in full-term newborns?
- Etiology of short stature in Indian children and an assessment of the growth hormone-insulin-like growth factor axis in children with idiopathic short stature
- Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy
- A personal series of 100 children operated for Cushing’s disease (CD): optimizing minimally invasive diagnosis and transnasal surgery to achieve nearly 100% remission including reoperations
- 12-Week aerobic exercise and nutritional program minimized the presence of the 64Arg allele on insulin resistance
- Letter to the Editor
- Successful treatment of life-threatening severe metabolic acidosis by continuous veno-venous hemodialysis in a child with diabetic ketoacidosis
- Case Reports
- Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
- To diet or not to diet in neonatal diabetes responding to sulfonylurea treatment
- Van Wyk-Grumbach syndrome with hemangioma in an infant
- Maternal iodine excess: an uncommon cause of acquired neonatal hypothyroidism
