Mucopolysaccharidosis type IV

MPS IV is a hereditary disorder. This means that it can be conveyed through the family. If parents have unfunctional copies of genes associated with that condition, each child may develop this disease with a 25% (1/4) chance. Autosomal recessive inheritance

Type A is caused by a defect in the GALNS gene. There is no enzyme called N-acetylgalactosamine-6-sulfatase in type A.

Type B is caused by a defect in the GLB1 gene. Type B patients can not produce sufficient β-galactosidase

The body needs these enzymes to break down long chain sugar molecules called keratan sulfate. In both types, abnormally large amounts of glycosaminoglycans accumulate in the body. This may damage organs

Usually, a urinalysis will be done first. These tests may indicate additional mucopolysaccharides, but they can not determine the specific shape of the MPS

In case of Type A, please try a medicine called Erosulfa alfa (Vimizim) instead of missing enzyme. It is administered intravenously (IV, IV). Please contact the provider for details

In both types, symptoms are handled on occurrence. Spinal fusion surgery can prevent permanent spinal cord injury of people with undeveloped cervical bone

Skeletal problems can cause serious health problems. For example, small bones at the top of the neck slip to damage the spinal cord and cause paralysis. If possible, surgery should be done to solve these problems.

Pyeritz RE. In hereditary connective tissue diseases: Goldman L, Schafer AI, editor. Goldman Sachs Medicine. 25th Edition Philadelphia, Pennsylvania: Elsevier Saunders; 2016: chapter 260

Spranger JW in mucopolysaccharidosis: Kliegman RM, Stanton BF, St Geme JW, Schor NF, editor. Nelson pediatric textbook. The 20th Edition Philadelphia, PA: Elsevier, 2016: Chapter 88

Reis JE. With mucopolysaccharide accumulation disease: Rimoin D, Korf B, editor. Emery and Rimoin's Principles and Practice in Medical Genetics 6th Edition Philadelphia, Pennsylvania: Elsevier; 2013: Chapter 102

Morquio syndrome (mucopolysaccharidosis IV A and B) is characterized by degradation of keratan sulfate, N-acetylgalactosamine-6-sulfate sulfatase (GALNS gene) deficiency in MPS IV or MPS IV β- galactosidase (GLB 1 gene) not exist. B, and urine contains excess keratin sulfate and chondroitin sulfate. Affected patients are associated with flat, flat vertebral body features, wedge shaped vertebral bodies, osteophyse dysplasia, and systemic osteoporosis. There are usually significantly shortened fuselages with kyphosis and limb shortening and valgus (Figures 6-31 to 6-33). Tooth dysplasia may occur and is an important feature to be recognized. Unlike other types of MPS, Morquio patients do not have rough facial features or mental retardation

Morquio syndrome (called mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome or Morquio) is a rare metabolic disorder in which the body can not handle certain types of mucopolysaccharides (long chain sugar molecules). The body functions as a lubricant and shock absorber. This congenital deficiency is an autosomal recessive inheritance and is therefore a commonly inherited lysosomal storage disease. : 544 In the United States, the prevalence of Morquio is estimated to be between 20 and 100,000 births.

This patient suffers from Hunter's syndrome, an extremely rare inherited disorder known as type II mucopolysaccharidoses (MPS 2). Hunter's syndrome causes hypoplasia, malformations and premature death. The most important thing a clinician can do is to identify the symptoms of the disease and introduce the patient for further evaluation. Like most rare illnesses, patient diagnosis is often long and annoying. On average, patients with rare illness examined seven experts before being correctly diagnosed. Grand Rounds aims to solve this problem by introducing rare diseases such as Hunter's syndrome to over 1 million health care workers on the platform of Figure 1.