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Mucopolysaccharidosis type VI Great Dane puppy. 4 months of age. The puppy has stunted growth and swollen joints and paws.

Mucopolysaccharidosis type VI Great Dane puppy. 4 months of age. The puppy has stunted growth and swollen joints and paws.

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Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clini...

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... proband (Fig. 1) was referred to the Pediatrics, Genetics and Reproduction Clinic at the School of Veterinary Medicine of the University of Pennsylvania. In addition to the previously noted clinicopathologic and imaging manifestations, mild cor- neal opacities, facial dysmorphia, and muzzle sloping, with a prominence of the rostral ventral mandible, ...
Context 2
... proband (Fig. 1) was referred to the Pediatrics, Genetics and Reproduction Clinic at the School of Veterinary Medicine of the University of Pennsylvania. In addition to the previously noted clinicopathologic and imaging manifestations, mild cor- neal opacities, facial dysmorphia, and muzzle sloping, with a prominence of the rostral ventral mandible, ...

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Citations

... Mucopolysaccharidoses cause adverse effects to various tissues, while gangliosidoses mainly affect the central nervous system, being more severe and having early fatal forms. [98][99][100][101][102][103][134][135][136][137][138][139][140][141][142][143][144][145][146][147][148] ...
... There are peroxisomal disorders (e.g., acatalasemia, primary hyperoxaluria type 1), 60,109 mitochondrial disorders (e.g., pyruvate dehydrogenase phosphatase deficiency) 18 and lysosomal disorders (e.g., glycogen storage diseases, mucopolysaccharidoses, neuronal ceroid lipofuscinoses). [55][56][57][134][135][136][137][138][139][140][141][142][143][144][145][146][147][148][154][155][156][157][158][159][160][161][162][163][164][165][166][167][168][169][170][171][172] The various glycogen degradation disorders are called glycogenoses; oligosaccharide degradation disorders are oligosaccharidoses (e.g., beta-mannosidosis, fucosidosis) 63,81 ; glycosaminoglycans (mucopolysaccharides) degradation disorders are mucopolysaccharidoses; ganglioside degradation disorders are gangliosidoses; and so on. When the molecules mentioned are not degraded, they accumulate in lysosomes and the diseases they cause form a large group known as lysosomal storage diseases, which also includes diseases resulting from the storing of other molecules, such as Krabbe disease (globoid cell leukodystrophy), 193 Gaucher disease, 219 and Batten disease (neuronal ceroid lipofuscinoses). ...
... In disorders where there is a deficiency of molecules or defects in cell trafficking and processing, there may be a need for specific blood tests or the use of next-generation sequencing tools. 2,6,220 Examples of this group are mucopolysaccharidoses, [134][135][136][137][138][139][140][141][142][143][144][145][146][147][148] neuronal ceroid lipofuscinoses, 154-172 fucosidosis, 81 beta-mannosidosis, 63 glycogen storage diseases including Lafora disease 55-59 and intestinal lipid malabsorption. 119 Group 3-Energy Metabolism Disorders. ...
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... Mutations in ARSB that result in a defective protein (i.e. enzyme deficiency) are known to be causal for the lysosomal storage disease known as Mucopolysaccharidosis (MPS) Type VI; with the concentration of urinary GAGs generally presenting as 5-100 times higher in patients with various forms of MPS (Pastores and Maegawa 2013;Sun et al. 2015;Vairo et al. 2015;Malekpour et al. 2018;Wang et al. 2018). Interestingly, the metabolism of GAGs is also known to be impaired in both humans and animals suffering from prion disease; with the degradation of GAGs disrupted by their interaction with PrP Sc , thus resulting in their accumulation and secretion in urine (Mayer-Sonnenfeld et al. 2005). ...
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... ARSB is the causative gene for the human disorder mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome), which is associated with short stature and with facial dysmorphism (Azevedo et al. 2004). Similar phenotypes caused by mutations to an orthologous gene have also been noted in dogs (Wang et al. 2018). ...
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The present case report describes the clinical signs of a 10-month-old, intact female, Domestic Shorthair cat presented with a history of chronic progressive difficulty to walk with the four limbs. The physical and neurological examinations revealed skeletal deformities, corneal opacity and a severe spastic non-ambulatory tetraparesis. Complete blood count and biochemistry profiles were unremarkable. Diffuse bone rarefaction, hyperostosis and an apparent fusion of the vertebral bodies were observed on spinal radiographs. A non-contrast computed tomography (CT) exam of the whole body of the patient was performed. Based on the medical history, clinical findings, laboratory analysis, spinal radiographs and CT findings, a lysosomal storage disorder was suspected. Genetic testing for mucopolysaccharidosis VI and VII revealed a genetic mutation, ARSB variant L476P, confirming the diagnosis of mucopolysaccharidosis type VI.
Chapter
Genetic information is inherited from parents to offspring. Typically, this information provides instructions to produce proteins that determine chemical and physical traits, including hematologic diseases. The genetic basis for hematologic disease is determined by the inheritance of genes containing specific DNA mutations. DNA variations commonly used in genetic analyses include: single‐nucleotide polymorphisms and insertion/deletion polymorphisms. Reliable evaluation of regulation of gene expressions is required for the understanding of the connection between genotype and phenotype. Screening for a genetic disorder is indicated when there is familial disease presentation, young age of onset, or when routine CBC, biochemistry, or urinalysis suggest known inherited disorders. Genetic or DNA testing identifies disease‐causing mutations in genes. DNA mutation tests are laboratory assays that need to be validated; however, validation is not commonly documented for DNA tests of veterinary species.