MUCOPOLYSACCHARIDOSES (MPS) IN DOMESTIC DOG (CANIS LUPUS FAMILIARIS). PART I. CHARACTERIZATION OF TYPES OF MUCOPOLYSACCHARIDOSES

Mucopolysaccharidosis (MPS) are a group of metabolic diseases (7 types in human and 5 types in domestic dog), which result from the accumulation of glycosaminoglycans in cells, tissue, organs, causing their abnormal functioning. They are the result of a deficiency or total inactivity of catabolic enzymes responsible for the break down of glycosaminoglycans. MPSs are characterized by a wide spectrum of clinical symptoms. Skeletal deformation, organomegaly, delayed growth and corneal opacities are typical symptoms of the disease. This is a group of rare, inherited metabolic diseases that affect the body’s ability to break down mucopolysaccharides. The aim of the literature research was to present information on the mode of inheritance of mucopolysaccharidosis and the genetic basis of individual types, including the breeds of dogs in which a given type of disease was identified. Due to the complexity of symptoms, mucopolysaccharidoses are difficult to treat. The diagnosis of mucopolysaccharidoses uses clinical diagnostic methods based on screening methods and molecular diagnostics, which are characterized by accuracy and sensitivity similar to methods used in humans.

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Publication Details

Journal
Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica
Published
2024-09-04
DOI
https://doi.org/10.21005/aapz2024.71.3.3
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

MUCOPOLYSACCHARIDOSES (MPS) IN DOMESTIC DOG (CANIS LUPUS FAMILIARIS). PART I. CHARACTERIZATION OF TYPES OF MUCOPOLYSACCHARIDOSES

Paulina JUNDZIŁŁ-BOGUSIEWICZ, Beata GRZEGRZÓŁKA, Joanna Gruszczyńska, Weronika Jabłońska et al.
Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica
Lysosomal Storage Disorders Research
article

MUCOPOLYSACCHARIDOSES (MPS) IN DOMESTIC DOG (CANIS LUPUS FAMILIARIS). PART I. CHARACTERIZATION OF TYPES OF MUCOPOLYSACCHARIDOSES

Paulina JUNDZIŁŁ-BOGUSIEWICZ, Beata GRZEGRZÓŁKA, Joanna Gruszczyńska, Weronika Jabłońska, Milena Bors, Kinga KONIECKIEWICZ, Gabriela ŁYSZKOWSKA
article en

Abstract

Mucopolysaccharidosis (MPS) are a group of metabolic diseases (7 types in human and 5 types in domestic dog), which result from the accumulation of glycosaminoglycans in cells, tissue, organs, causing their abnormal functioning. They are the result of a deficiency or total inactivity of catabolic enzymes responsible for the break down of glycosaminoglycans. MPSs are characterized by a wide spectrum of clinical symptoms. Skeletal deformation, organomegaly, delayed growth and corneal opacities are typical symptoms of the disease. This is a group of rare, inherited metabolic diseases that affect the body’s ability to break down mucopolysaccharides. The aim of the literature research was to present information on the mode of inheritance of mucopolysaccharidosis and the genetic basis of individual types, including the breeds of dogs in which a given type of disease was identified. Due to the complexity of symptoms, mucopolysaccharidoses are difficult to treat. The diagnosis of mucopolysaccharidoses uses clinical diagnostic methods based on screening methods and molecular diagnostics, which are characterized by accuracy and sensitivity similar to methods used in humans.

Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et ZootechnicaVol. 372(71)
Openalex Percentile: Top 80%
Lysosomal Storage Disorders Research
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