Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients

Hirst, Lorna; Mubeen, Suhaym; Abou-Ameira, Gehan; Chakrapani, Anupam

doi:10.1002/ccr3.3885

Cited by 9 publications

(21 citation statements)

References 9 publications

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“…However, a lot of its cases are passed on in an autosomal recessive patern, with only type II passed on in an X-linked pattern. 15 The mucopolysaccharidoses are inbred metabolic disturbances noted to provide clinical matter, mainly corresponded to airway, cardiac and skeletal anomaly, in children in the course of anesthesia. The alteration clinical superintendence of the mucopolysaccharidosis can be explained in three stages.…”

Section: Anesthetic Involvement Of the Alteration Superintendence Of ...mentioning

confidence: 99%

“…Atracurium, a muscle relaxant, if used for a long time, can cause delayed offset in patients. 15 As recommended, administration of glucose supplements, frequent perioperative blood sugar monitoring, and neuromuscular blockade are recommendations to this group of patients. No specific approach to anesthesia would be recommended.…”

Section: Children With Medium-chain Acetyl-coa Dehydrogenase Deficiencymentioning

confidence: 99%

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Role of Genetics in Anesthesiology

Maritska

Iswara

Winardi

et al. 2022

Mol Cell Biomed Sci

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One thing that differentiates one person from another is one’s genetic make-up. Genetic plays a role in every branch of medicine, including anesthesiology. An anesthesiologist must be well familiarized with hereditary (genetic) conditions, chromosomal traits, heredity-familial disorders, and even recessive variants because particular conditions might demand a different anesthetic and perioperative pharmacological management. These circumstances may lead to an opening of a rapidly expanding state of pharmacogenetics/genomics and its relevancy in anesthesia nowadays. This narrative review provides insight into the role of genetics in the field of anesthesiology.

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Section: Anesthetic Involvement Of the Alteration Superintendence Of ...mentioning

confidence: 99%

Section: Children With Medium-chain Acetyl-coa Dehydrogenase Deficiencymentioning

confidence: 99%

Role of Genetics in Anesthesiology

Maritska

Iswara

Winardi

et al. 2022

Mol Cell Biomed Sci

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“…DTE is the most encountered deviation from normal eruption. 68 Gaucher disease, glycogen storage disorder types 1a and 1b, I-cell disease (mucolipidosis II), mucopolysaccharidoses (predominantly Hurler Scheie, Hunter and Maroteaux Lamy syndrome) 25,69 portray systemic conditions with a predilection for DTE. Moreover, local factors such as cleft lip and palate, bony pathology, and supernumerary teeth that occur as part of certain IEM have a possibility to cause a localised DTE.…”

Section: Considerations In the Dental Management Of Metabolic Disordersmentioning

confidence: 99%

“…Taurodontism describes a dental anomaly which results in enlargement of the pulp chamber vertically at the T A B L E 1 Dental features commonly found in constituent inherited metabolic disease. 4,5,7,17,25,43,51,52,58,62,66,69,[76][77][78][79][80][81][82] expense of the roots and can be seen in glycogen storage disorders (GSD), various mucopolysaccharidosis and multiple sulfatase deficiency. A cross sectional study of 14 MPS patients (mixed diagnoses) showed taurodontism in 57%, 22 whereas taurodontism in GSD is limited to single case reports and case series.…”

Section: Dental Anomaliesmentioning

confidence: 99%

Inborn errors of metabolism and their impact in paediatric dentistry

Hirst

Chakrapani

Mubeen

2022

J of Inher Metab Disea

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The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by‐products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

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“…Стоматологические проблемы. Часто упускаемыми симптомами из-за проблем в поведении становятся случайные стоматологические находки, такие как облитерированные камеры пульпы и корневые каналы, гипоплазия дентина [25,26].…”

Section: таблица классификация подтипов мукополисахаридоза III типаunclassified

Early diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome) in the practice of a pediatrician

Volgina

Spiridonova

Kurmaeva

et al. 2021

Ross. vestn. perinatol. pediatr.

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Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a lysosomal storage disease inherited in an autosomal recessive manner, it is characterized by the accumulation of heparan sulfate in the cells of the body, which leads to the development of multiple organ failure. It occurs with a frequency of 1: 70 thousand newborns. There are 4 subtypes of the disease: A, B, C, D. Cognitive and neurological disorders are the earliest symptoms of the disease. Delay (loss) of speech development, regression of acquired skills, hyperreactivity, autistic character traits, mental retardation, sleep disturbance, epilepsy are noted; aggressive behavior is formed, the ability to move is impaired, hepatomegaly appears. There are observed the violations of other organs and systems – the organ of vision, bone, respiratory, cardiovascular systems, ENT organs, dental problems. Clinically, the subtypes of mucopolysaccharidosis III are practically indistinguishable. The average age at diagnosis is 2–6 years. Diagnostic search includes qualitative and quantitative determination of glycosaminoglycans in urine. It should be remembered that with mild variants of the disease, these indicators may be within the normal range. In the future, it is necessary to assess the activity of the corresponding enzymes in leukocytes, plasma or serum, in skin fibroblasts. Genetic testing is then performed to identify the mutation of the corresponding defective gene. Differential diagnosis should be carried out with other types of mucopolysaccharidosis, mucolipidosis, gangliosidosis, multiple sulfatase deficiency, some rheumatoid diseases.

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Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 9 publications

References 9 publications

Role of Genetics in Anesthesiology

Role of Genetics in Anesthesiology

Inborn errors of metabolism and their impact in paediatric dentistry

Early diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome) in the practice of a pediatrician

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