Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)

Abstract

Introduction: Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome (#OMIM 253200), is a rare autosomal recessive genetic disorder due to deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase (arylsulfatase B) required for the breakdown of dermatan sulfate and chondroitin sulfate. Patient: Report of a female patient started on enzyme replacement therapy at 17 months of age. At the time of diagnosis (14 months), the patient presented mild corneal opacity and significant thoracolumbar kyphosis, but no visceral involvement or growth arrest. At 73 months of treatment, weight was normal, although the patient was in a low height percentile. The patient showed adequate neural development, with improvement in lumbar spine and joint involvement. Corneal compromise or valvular disease progression was not evident. Conclusion: Early and timely diagnosis and treatment with enzyme replacement therapy are essential, as the means to change the natural history of the disease, avoiding comorbidities and improving final prognosis.

Mucopolysaccharidosis Type VI with Recurrent Chest Infection

“…Mucopolysaccharidosis (MPS) is a collection of genetic mistakes in complex chemical catabolism, mostly affecting patients in their childhood, that comes in different forms that are caused by enzyme deficits and result in different clinical symptoms for each form [1][2][3][4]. Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive multi-systemic lysosomal storage disease that is autosomal recessive and caused by a lack of arylsulfatase B (ARSB), which causes dermatan sulfate to build up in the body, leading to the degradation of glycosaminoglycans (GAG), which is caused by mutations in the ARSB gene.…”

“…Patients with MPS VI experience a variety of multi-systemic symptoms over a typically progressive and chronic course that primarily affect their cardiovascular, respiratory, and skeletal systems, as well as their skin, cornea, liver, spleen, meninges, and brain. In addition to these diseases, they can also affect health-related quality of life and activities of daily living [ 1 , 5 , 6 , 13 ]. In general, examining the excretion of GAGs in the urine is typically the first step in the diagnosis of MPS VI.…”