Table 3.

Genes and Disorders of Interest in the Differential Diagnosis of Mucopolysaccharidosis Type VII

GeneDisorderMOIClinical FindingsLaboratory Findings
IDUA MPS I ARSimilar to MPS VIIDeficient alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts
IDS MPS II XLSimilar to MPS VII but no corneal cloudingDeficient iduronate 2-sulfatase enzyme activity in leukocytes or fibroblasts in the presence of normal activity of at least one other sulfatase
ARSB MPS VI (OMIM 253200)ARSimilar to MPS VIIDeficient arylsulfatase B enzyme activity in leukocytes or fibroblasts
GALNS MPS IVA ARProminent skeletal disease, normal intellectDeficient N-acetylgalactosamine 6-sulfatase enzyme activity in leukocytes or fibroblasts
GLB1 MPS IVB (See GLB1-Related Disorders.)ARProminent skeletal disease, normal intellectDeficient beta-galactosidase enzyme activity in leukocytes or fibroblasts
GNPTAB ML II & ML IIIα/β (See GNPTAB-Related Disorders.)ARSimilar to MPS VII but skin is thickened & waxyAbnormal urine oligosaccharides, increased activity of multiple lysosomal hydrolases in plasma
MAN2B1 Alpha-mannosidosis ARSimilar to MPS VII but may have psychiatric manifestations in adolescenceDeficient acid alpha-mannosidase enzyme activity in leukocytes or fibroblasts
NEU1 ML I (sialidosis) (OMIM 256550)ARSimilar to MPS VII but w/vision loss, myoclonic seizures, cherry-red spotAbnormal urine oligosaccharides, deficient neuraminidase enzyme activity in fibroblasts
SUMF1 Multiple sulfatase deficiency ARSimilar to MPS VII but w/ichthyosis, retinopathy, seizuresLow activity levels in at least two sulfatase enzymes

AR = autosomal recessive; ML = mucolipidosis; MOI = mode of inheritance; MPS = mucopolysaccharidosis; XL = X-linked

From: Mucopolysaccharidosis Type VII

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