Learn About Mucopolysaccharidosis Type 4A

What is the definition of Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A)?
Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The more severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum, and malformations of the spine, hips and wrists. There may be involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. MPS IVA is caused by changes in the GALNS gene and is inherited in an autosomal recessive manner.
Save information for later
Sign Up
What are the alternative names for Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A)?
  • Mucopolysaccharidosis type IVA
  • GALNS deficiency
  • Galactosamine-6-sulfatase deficiency
  • MPS 4A
  • MPS IVA
  • MPS4A
  • MPSIVA
  • Morquio A disease
  • Morquio disease type A
  • Morquio syndrome A
  • Mucopolysaccharidosis type 4A
  • N-acetylgalactosamine-6-sulfate sulfatase deficiency
Who are the top Mucopolysaccharidosis Type 4A Local Doctors?
Distinguished
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Mucopolysaccharidosis Type 4A Clinical Trials?
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Summary: ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of d...
Match to trials
Find the right clinical trials for you in under a minute
Get started
Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center
Summary: Mucopolysaccharidosis IVA (MPS IVA) (or Morquio A disease) is a rare recessive autosomal lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in accumulation of the glycosaminoglycans (GAGs) chondroitin-6-sulfate and keratin sulfate (KS). Patients display progressive development of skeletal and joint abnormalities and non-skeletal features includin...
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Mucopolysaccharidosis Type 4A?
Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A.
Summary: Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A.
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Summary: Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Tired of the same old research?
Check Latest Advances
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.
Summary: Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.