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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—...
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... Morquio syndrome [Mucopolysaccharidosis (MPS) type IV A)] is a sparse congenital (autosomal recessive) metabolic (lysosomal storage) disease instigated by the insufficiencies in the metabolism and dilapidation of unique enzymes named GAGs [121][122][123][124][125]. Morquio syndrome resulted in diverse continuing and long-lasting skeletal deformities. ...
This is an exhaustive narrative review on nutritional importance regarding periodontium health. Macronutrients have
a significant impact on oral health. Highly refined carbohydrate intake has been linked to dental cavities and periodontal
diseases. In contrast, complex carbohydrates in whole grains and vegetables promote periodontal health. Proteins are
essential for host defenses and the synthesis of connective tissues, making them crucial for periodontal well-being.
Vegetable proteins positively affect periodontal health. Dietary fats promote inflammation and increase the risk of
periodontal disease. Omega-3 fatty acids are well-known for their anti-inflammatory properties and minimizing
periodontal inflammation. Vitamins and minerals are essential in maintaining periodontal health. Vitamins A, D, and
K are necessary for oral epithelial integrity, bone growth, and tissue maintenance. Ca2+ and Mg2+ deficiencies have
been associated with severe periodontal diseases. Antioxidants like vitamin C can mitigate periodontal inflammation.
Most dental practitioners acknowledge that a person’s nutritional status attenuates periodontal disorders. The severity
of inflammation in the gums is indirectly impacted by the inherent resistance of the periodontal tissues to infection
at a systemic level. Dental professionals should address local irritants through different procedures, promote daily
plaque control at home, and offer nutritional counseling on improving overall periodontal health
... Patients with both fast and slowly advancing forms of the disease could sustain permanent harm if the condition continued unrecognized and untreated and enzyme replacement therapy was subsequently postponed [7]. Worldwide improvements have been made in MPS treatment; however, due to a paucity of enzymes and molecular tests in low-and middle-income countries, it is challenging to confirm a diagnosis of one of the MPS [15]. ...
... Most previous studies reported that the onset age was commonly around the first or second year of age, except for MPS VII [15]. Our patient had a thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation; these abnormalities within the cells of the heart and its functions may be explained by GAG accumulation. ...
... Previous studies showed that echocardiography can detect valvular heart diseases, with the mitral valve accounting for 96%, the tricuspid valve for 71%, and the aortic valve for 43%. Therefore, cardiac evaluations by electrocardiography, echocardiography, and blood pressure readings were recommended every one to two years to assess changes in the heart's structure, function, rhythm, and conduction [15,18]. ...
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) is a progressive multi-systemic autosomal recessive disease resulting from a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase). Here we report the case of a three-year-old male child born full-term via normal vaginal delivery. He had frequent admissions due to a chest infection that started at two months of age. At the age of 23 months, he was admitted after complaining of shortness of breath (SOB) due to asthma and aspiration pneumonia; additionally, dysmorphic features were noticed (single palmar crease, short round toes, coarse facial features such as a flat nose, big lips).
A genetic study showed mucopolysaccharidosis VI (MPS VI). At three years of age, he was complaining of cough and SOB. Examination showed wheezing all over the chest, normal first and second heart sounds (S1 and S2), a murmur with no clicks, hepatosplenomegaly, and a palpable left kidney. However, the central nervous system (CNS) and eye examinations were normal. Echocardiography revealed a thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation. Therefore, the patient presented with different clinical symptoms of MPS VI.
It is important to increase the physicians' awareness about MPS by focusing on increasing the probability of MPS as a differential diagnosis whenever patients present with abnormal appearance, limb deformities, and recurrent unexplained infections; hence, making early diagnosis and treatment decisions, leading to a slowing down of the progression of the disease and enhancing the patient's quality of life.
... Mucopolysaccharidoses (MPS) are inherited metabolic conditions caused by enzyme deficiency or malfunction leading to an accumulation of lysosomal glycosaminoglycans (GAGs) [1]. GAGs are long chain carbohydrates which play an important role in the formation of bone, cartilage, tendons, skin, and connective tissues. ...
... The prevalence of MPS is 1/20,000 live births worldwide [1]. Of the seven different identified sub-types (MPS I, II, III, IV, VI, VII, and IX), autosomal recessive MPS IV (also called Morquio syndrome) primarily affects the skeleton with cognitive functioning largely spared. ...
Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as a primary skeletal dysplasia such as spondylo-epiphyseal dysplasia, which shares many similar phenotypic features. Here, we utilised whole exome sequencing to make the diagnosis of MPS IVA in a resource poor country. We report for the first time the identification of a biallelic GALNS missense variant (c.697G>A, p.Asp233Asn) in the Pakistani population and highlight the potential contribution that academic institutions can make in rare disease diagnosis in the absence of a developed clinical genetic service.
