Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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GARD: ¹⁹ Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance.

MalaCards based summary: Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to hurler-scheie syndrome and mucopolysaccharidosis, type vii. An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Disease and Metabolism. The drugs Rituximab and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are coarse facial features and recurrent respiratory infections

UniProtKB/Swiss-Prot: ⁷³ A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPSPS is an autosomal recessive form characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, intellectual disability, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure.

Orphanet: ⁵⁸ A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.

OMIM®: ⁵⁷ MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017). (617303) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

Wikipedia: ⁷⁵ Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Clinical features from OMIM®:

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