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GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis, MPS-IV-A

Mucopolysaccharidosis, MPS-IV-A

Synonyms
Galactosamine-6-sulfatase deficiency; MPS 4A; MPS IVA; Morquio A disease; Morquio syndrome A; Morquio syndrome A, mild; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis type IV A
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Mucopolysaccharidosis Type IVA
The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Debra S Regier
Matthew Oetgen
Pranoot Tanpaiboon
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Available tests

71 tests are in the database for this condition.

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Clinical tests (71 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GALNAC6S, GAS, GalN6S, MPS4A, GALNS
    Summary: galactosamine (N-acetyl)-6-sulfatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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