Mucopolysaccharidoses : quand y penser ?

Michaud, Martin; Belmatoug, Nadia; Catros, F.; Ancellin, S.; Touati, Guy; Levade, Thierry; Gaches, F.

doi:10.1016/j.revmed.2019.11.010

Cited by 16 publications

(15 citation statements)

References 48 publications

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“…Aparência de casca de laranja, lesões papular granular Fonte: Adaptada de M. Michaud et al, 2020. As manifestações clínicas geralmente estão relacionadas ao tipo de GAGs acumulados: o acúmulo de sulfato de heparano (ou seus produtos de clivagem) induz manifestações neurológicas (MPS I, II e III), o acúmulo de sulfato de queratano induz opacidades corneanas e anormalidades ósseas sem danos neurológico (MPS IV-A e VI), o acúmulo de sulfato de dermatano induz doenças cardíacas e valvulopatias (MPS I, II e VI).…”

Section: Cutâneounclassified

Doenças De Depósito Lisossômico

PERILLO¹,

TELECIO²,

FOCK³

et al. 2023

Fundamentos E Práticas Pediátricas E Neonatais - Edição VIII

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Section: Cutâneounclassified

Doenças De Depósito Lisossômico

PERILLO¹,

TELECIO²,

FOCK³

et al. 2023

Fundamentos E Práticas Pediátricas E Neonatais - Edição VIII

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“…Mucopolysaccharidosis (MPS) is a skeletal dysplasia that is characterized by a group of inherited disorders caused by a deficiency of mucopolysaccharide degrading enzymes or also called glycosaminoglycans (GAGs) [1] . This disease is characterized by excessive lysosomal storage of partially degraded GAG in connective tissue and elevation of GAG fragments in urine, blood, and cerebrospinal fluid [1] , [2] , [3] . Eleven different types of enzyme deficiencies have been identified that have been associated with seven different types of MPS (MPS I to IV, VI, VII and IX) [1] whose clinical manifestations and severity vary from one MPS to another, but also within the same type of MPS [2] .…”

Section: Introductionmentioning

confidence: 99%

Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome

Arteaga

Andrade

Puchana

et al. 2022

Radiology Case Reports

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Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.

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“…Мукополисахаридозы (МПС) -группа редких наследственных болезней обмена веществ, связан ных с нарушением метаболизма гликозаминогликанов (ГАГ), приводящим к поражению органов и тканей [5,6]. Клиника, возраст проявления сим птомов, методы диагностики и лечения заболева ния значительно варьируют в зависимости от типа МПС [5,7]. Тип МПС определяется недостаточно стью и/или отсутствием тех или иных ферментов в лизосомах клеток (табл.…”

Section: Introductionunclassified

“…1) [5]. Накопление ГАГ при данной группе заболеваний встречается прак тически во всех органах и тканях: в хрящах, сухо жилиях, надкостнице, сосудистой стенке, клапанах сердца, миокарде, эндокарде, печени, селезенке, в нервной ткани [5,7,8,9].…”

Section: Introductionunclassified