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Mucopolysaccharidosis

  1. Characterized by deposition of dermatan sulfate (I,II, VI, VII), heparan sulfate (I, II, III, VII) or keratan sulfate (IV) in tissues and their excretion in urine
  2. Inheritence autosomal recessive for all except (Sex linked)
  3. Characterized by Hepatosplenomegaly, coarse facial features, corneal clouding, bony changes (dysostosis multiplex) and mental retardation in various combinations and severity according to types

Type

Major Clinical Manifestations

MPS I H Hurler

Mental retardation, heart disease, corneal clouding, coarse facies large tongue, dysostosis multiplex, organomegaly, death before 10 years of age [All features of MPS]

MPS I S Scheie & MPS I H/S Hurler – Scheie

Milder (IS) and mildest (IH/S) varieties of Hurler

MPS II Hunter

Wide spectrum of severity, mild to severe; dysotosis multiplex, mental retardation, no corneal clouding organomegaly, death before 15 years in severe form; normal intelligence with variable severity of somatic features in the milder form [Type I minus corneal clouding]

MPS III (Sanfillipo) (A,B,C,d)

Hyperactivity abnormalities, mild somatic features, profound mental retardation

MPS IV Morquio

Unique skeletal abnormalities, odontoid hypoplasia, short stature, normal intelligence; [Severest and distinct skeletal changes 7 deformities with mild somatic features, no organomegaly and normal intelligence]

MPS VI Maroteaux – Lamy

Normal intelligence, dysosotosis multiplex, organomegaly, joint stiffness, corneal clouding; milder forms exist [Type 1 minus mental retardation]

MPS VII Sly

Mental retardation, heart disease, corneal clouding, dysostosis multiplex, organomegaly; wide spectrum of clinical severity with fetal and neonatal form [Earliest to be recognized; maybe in utero]


Corneal clouding – 1, VI; minimal in III, IV (Absent in II)
 

Mental retardation – I, II, III (Absent in IS, IV & VI)
 

Organomegaly – I, II, VI, VII (Absent in III, IV)

 

Clinical features of mucopolysaccharidoses (MPS)

Eponym/MPS

Number

Clinical Features

Mental Retardation

Coarse facies

Hepatosplenomegaly

Dysostosis multiplex

Corneal clouding

Hurler / IH

+

+

+

+

+

Scheie / IS

-

-

-

-

+

Hunter / II

+

+

+

+

-

Sanfilippo/ III

+

-

-

-

-

Morquio / IV

-

-

-

+

+

Maroteaux – Lamy / VI

-

-

-

+

+

Sly / VII

-

-

+

+

-





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