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Mucopolysaccharidosis Type VI (MPS VI)

Test number: 8468

MPSVI

Breeds
Balinese , Birman (Sacred cat of Burma) , Domestic Shorthair , Javanese , Oriental Shorthair , Peterbald , Seychellois , Siamese , Thai , Tonkinese .
The Disease
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that is triggered by two independent mutations in the gene for enzyme N-acetylgalactosamine 4-sulfatase (4S). Both mutations are autosomal and recessive. The two mutations occur separately leading to the presence of six possible genotypes. The two mutations have different effects on the severity of the disease. A mild form (m) and a severe form (s), the mild form may only be detected by certain laboratory tests. With the severe form symptoms starts at 6-8 weeks of age and includes wide face, shortened nose, small ears, reduced flexibility and retarded growth compared to unaffected littermates. By 8 months of age, affected cats suffer of severe hind-limb mobility problems or paralysis, neurological symptoms and dwarfism. Clinically, urine samples show increased levels of dermatan sulfate (DS) and an increase in white blood cell granules. Organs and tissues can also be compromised by accumulation of intercellular DS. It seems that cats with one copy of the severe and one copy of the mild form are unlikley to show symptoms.

The severe mutation: s

The mild mutation: m

Possible genotypes:

N/N Normal, cat does not have either the server or the mild mutations

N/s Carrier, cat has one copy of severe mutation but is healthy

N/m Carrier, cat has one copy of MPSVIm mutation but is healthy

s/s Affected, cat has 2 copies of the severe S mutation

m/m Affected, cat has 2 copies of the mutation

m/s Cat has one copy each of the severe and one copy of the mild mutation but may be otherwise healthy

Trait of Inheritance
Autosomal recessive

Inheritance : trait
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. .
Turnaround
2 - 3 weeks
Price
£ 48.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P  
Autoimmune Lymphoproliferative Syndrome (ALPS)  
HCM (Hypertrophic Cardiomyopathy)  
PKD (Feline Polycystic Kidney Disease)  
PK Deficiency (Pyruvate Kinase Deficiency)  
rdAc-PRA (Progressive Retinal Atrophy )  
Genetic Blood groups in cats  
SMA (Spinal Muscular Atrophy )  
Serological Evaluation of blood Groups  
Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)  
Head Defect (BHD) *  
Alpha-Mannosidosis (AMD)  
Congenital Myasthenic Syndrome (CMS)  
Gangliosidosis GM1  
Gangliosidosis GM2  
Gangliosidosis GM2  
Mucopolysaccharidosis type VII (MPS VII)  
Myotonia Congenita (Fainting Goat)  
pd - Progressive Retinal Atrophy (pd-PRA)  
Progressive Retinal Atrophy (rdy-PRA)  
HCM1 + PK Deficiency + SMA  
Hypotrichosis and Short Life Expectancy  
Bengal Progressive Retinal Atrophy (PRA-b) *  
Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups  
Osteochondrodysplasia (Scottish Fold Osteodystrophy)  
Primary Congenital Glaucoma (PCG)  
Cystinuria (Feline Cystinuria) (CY)  
Glycogen Storage Disease ( GSD ) Type IV  

 
 
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125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066