Related Experiment Video

Updated: May 25, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria

Z S Gucev1, V Tasic, I Sinigerska

  • 1University Children's Hospital, Medical School, Skopje, R. Macedonia.

Prilozi
|January 31, 2012
PubMed
Abstract

Insights

Mucopolysaccharidosis II (MPS II) is a genetic disorder caused by iduronate-2-sulfatase deficiency. This study reports new genetic mutations and calculated incidence and prevalence rates in Bulgaria and Macedonia.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, is an X-linked genetic disorder resulting from a deficiency in the enzyme iduronate-2-sulfatase (IDS).
  • This deficiency leads to the accumulation of glycosaminoglycans in various tissues, causing progressive cellular damage and a wide range of clinical manifestations.

Purpose of the Study:

  • To determine the incidence and prevalence of MPS II in Bulgaria and Macedonia.
  • To identify and characterize novel genetic mutations associated with MPS II.
  • To correlate genotype with phenotype in affected individuals.

Main Methods:

  • Retrospective analysis of 11 boys diagnosed with MPS II between 1998 and 2008 in Bulgaria and Macedonia.
  • Clinical evaluation including IQ assessment, physical examination, and assessment of organomegaly and skeletal abnormalities.
  • Genetic analysis to identify IDS gene mutations and determine carrier status in female relatives.
  • Calculation of incidence and prevalence rates based on national census data.

Main Results:

  • Eleven boys with MPS II were identified, with a mean age at diagnosis of 4.77 years. All presented with severe intellectual disability, coarse facial features, and hepatomegaly.
  • Common clinical features included splenomegaly, dysostosis, kyphosis, deafness, growth retardation, stiff joints, and hypertrophic cardiomyopathy.
  • Two novel mutations, p.K236N and p.Q80K, were discovered in the IDS gene, with distinct phenotypic correlations. Calculated incidence rates were 0.36 and 0.46 per million, and prevalence rates were 3.6 and 4.6 per million boys in Macedonia and Bulgaria, respectively.
  • Twenty-nine female relatives were identified as heterozygote carriers.

Conclusions:

  • This study provides the first calculated incidence and prevalence rates for MPS II in South Eastern European countries.
  • Two novel genetic mutations in the IDS gene were identified and correlated with the clinical spectrum of MPS II.
  • The findings highlight the complexity of correlating genotype with phenotype in MPS II and emphasize the need for further research.

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes: