Mucopolysaccharidosis (MPS) I

Related Terms: Alpha-L-Iduronidase Deficiency, Hurler Syndrome, Hurler-Scheie Syndrome, IDUA, MPS I, Scheie Syndrome

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

6–8 weeks of age

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - Boston Terrier
Canine - Plott Hound
Feline - Domestic Short Hair

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This disease is characterized by stunted growth, failure to thrive, facial dysmorphia, corneal clouding, organomegaly, heart disease, and joint disease.

2–4 years of age

Autosomal recessive

Lysosomal storage in multiple organs along with degermation and inflammation of affected tissues.

IDUA and NM_001313883.1:c.19_20insCGGCCCCC (Boston Terrier) IDUA and NM_001313883.1:c.155+1G>A (Plott Hound) IDUA and NM_001305032.1:c.1041_1043delCGA (Domestic Short Hair)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Mucopolysaccharidosis (MPS) I and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Mucopolysaccharidosis (MPS) I but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Mucopolysaccharidosis (MPS) I and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Mansour TA, Woolard KD, Vernau KL, Ancona DM, Thomasy SM, Sebbag L, Moore BA, Knipe MF, Seada HA, Cowan TM, Aguilar M, Titus Brown C, Bannasch DL. Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. Sci Rep. 2020 Apr 16;10(1):6558. doi: 10.1038/s41598-020-63451-4. PMID: 32300136; PMCID: PMC7162951. Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics. 1992 Nov;14(3):763-8. doi: 10.1016/s0888-7543(05)80182-x. PMID: 1339393. Shull RM, Helman RG, Spellacy E, Constantopoulos G, Munger RJ, Neufeld EF. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol. 1984 Mar;114(3):487-95. PMID: 6320652; PMCID: PMC1900418. Spellacy E, Shull RM, Constantopoulos G, Neufeld EF. A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A. 1983 Oct;80(19):6091-5. doi: 10.1073/pnas.80.19.6091. PMID: 6412235; PMCID: PMC534366. Shull RM, Munger RJ, Spellacy E, Hall CW, Constantopoulos G, Neufeld EF. Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol. 1982 Nov;109(2):244-8. PMID: 6215865; PMCID: PMC1916101. He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab. 1999 Jun;67(2):106-12. doi: 10.1006/mgme.1999.2860. PMID: 10356309.