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Table 2 Differential Diagnosis of MPS VI.

From: Mucopolysaccharidosis VI

Disease Typical Age at Diagnosis Typical Life Expectancy Inheritance Common Differentiating Physical Features Intelligence and Behaviour Excess GAG excreted in urine
MPS I Hurler (IH), Scheie (IS), and Hurler-Scheie (IH-IS) syndrome ▪IH: Infancy (before 1 year old)
▪IS: between 10 and 20 years of age
▪IH-IS: between 3 and 8 years of age
▪IH: Death in childhood.
▪IS: Normal lifespan.
▪IH/IS: Death in early adulthood
▪Autosomal recessive ▪Stature ranges from extremely short after 1 year of age to short
▪Skeletal abnormalities range from severe in IH to stiff joints in IS
▪Very coarse to moderately coarse facial features
▪Corneal opacities
▪IH: Severe mental retardation
▪IS: Normal intelligence
▪IH/IS: Normal intelligence
▪Heparan sulfate and <70% dermatan sulfate
MPS II
(Hunter
Syndrome)
▪Severe disease: 1 to 2 years of age ▪Severe disease: death before 15 years of age
▪Attenuated disease: survival into adulthood
▪X-linked recessive ▪Stature ranges from moderately short stature after 1 year of age to short
▪Marked skeletal abnormalities in severe disease
▪Coarse facial features
▪Absence of corneal opacities
▪Pebbly ivory skin lesions in some patients
▪Severe disease: marked mental retardation after 1 year of age
▪Attenuated disease: normal intelligence
▪Heparan sulfate and <50% dermatan sulfate
MPS III
(Sanfilippo A, B, C, and D syndrome)
▪4 to 6 years of age ▪Death in puberty is common ▪Autosomal recessive ▪Normal stature
▪Mild skeletal abnormalities
▪Mild coarseness of facial features
▪Absence of corneal opacities
▪Profound mental deterioration, especially after 3 years of age
▪Hyperactivity
▪Heparan sulfate
MPS IV
(Morquio
syndrome A
and B)
▪1 to 3 years of age ▪Survival ranges from childhood to middle age ▪Autosomal recessive ▪Extreme short stature after 1 year of age
▪Skeletal abnormalities are distinctive
▪Hypoplasia of tooth enamel
▪Mid-face hypoplasia and mandibular protrusion
▪Corneal opacities
▪Normal (A) Keratan sulfate and
chondroitin 6-sulfate
(B) Keratan sulfate
MPS VII
(Sly syndrome)
▪Neonatal to childhood ▪Survival ranges from infancy to at least the fourth decade of life ▪Autosomal recessive ▪Skeletal abnormalities
▪Hepatosplenomegaly
▪Hydrops fetalis is a common form of presentation
▪Intellectual deficits ▪Dermatan sulfate
▪Heparan sulphate
▪Chondroitin 4-, 6-sulfates
MPS IX ▪Adolescence ▪Not known, as only 1 adolescent patient identified in literature ▪Autosomal recessive ▪Short stature
▪Periarticular masses in soft tissue
▪Normal ▪Hyaluronan
Multiple Sulfatase Deficiency (also called mucosulfatidosis or Austin syndrome) ▪By 2 years for severe diseases ▪Death during the first decade of life ▪Autosomal recessive ▪Skeletal abnormalities usually are severe
▪Hepatosplenomegaly
▪Loss of retinal pigment, grey maculae, and optic atrophy
▪Neurodegenerative signs with demyelination lead to a vegetative state and death
▪Ichthyosis
▪Neuro-degenerative disease leads to a vegetative state ▪Glycosaminoglycans (GAG)
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