" Nutritional assessment in patients of Mucopolysaccharide "

The mucopolysaccharidoses (MPS) are lysosomal diseases caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans (GAGs), previously known as mucopolysaccharides, Fragments of partially degraded GAGs accumulate in the lysosomes, resulting in cellular dysfunction and clinical abnormalities The main GAG chains are degraded by 11 lysosomal hydrolases enzymes gives rise to the progressive accumulation of GAGs in most tissues and organ systems, as well as in urine Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive "coarse" facial features, and abnormalities of the skeleton especially joint problems. Additional findings include short stature, heart abnormalities, breathing irregularities, hepatosplenomegaly and neurological abnormalities. The severity of the different MPS disorders varies greatly among affected individuals, even among those with the same type of MPS and even among individuals of the same family.

In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies with an affected baby are complicated by a condition called non-immune hydrops fetalis. Mild forms of these disorders may not become apparent until childhood or adolescence. In most cases, the mucopolysaccharidoses are chronic, progressive disorders and, depending upon the type of MPS and severity, affected individuals may experience a decline in physical and mental function, sometimes resulting in life-threatening complications.

Nutritional assessment in MPS focuses on identifying and addressing potential deficiencies and challenges related to the disease's impact on growth, development, and feeding. This involves evaluating dietary intake, assessing growth parameters, and monitoring for specific nutrient deficiencies, particularly those impacting bone health and overall metabolic function The dietetic treatment of MPS does not only aim to correct diarrhea and constipation but also help in the consistency of the dysphagia treatment probable adequacy in vitamin (B1, B2, and B3) levels since they are largely spread in the food. These vitamins may participate in energetic metabolism, in redox reactions. In this regard, niacin plays a critical role in nucleic acids, fatty acids and cholesterol synthesis, DNA repair, and steroid hormones production.

Inclusion Criteria:Confirmed diagnosis of mucopolysaccharidosis (any subtype) by enzymatic assay or genetic testing

Age between 1 and 18 years

Stable clinical condition at time of enrollment

Informed consent obtained from parent/guardian, and assent from child when applicable -

Exclusion Criteria:Presence of other chronic conditions affecting growth or nutrition (e.g., untreated endocrine disorders, severe cardiac failure unrelated to MPS)

Acute illness or hospitalization within the last 2 weeks prior to assessment

Patients who received nutritional supplementation or dietary intervention within 3 months prior to enrollment that could affect baseline nutritional assessment

Refusal or inability to comply with study assessments

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