Enterokinase Deficiency: A Case of Pancreatic Insufficiency

Madhusudan, Manoj; Sankaranarayanan, Srinivas; Ravikumar, Thanjavur S.

doi:10.1007/s12098-021-03801-w

Cited by 3 publications

(6 citation statements)

References 2 publications

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“…EP is an essential enzyme in food digestion and the physiological activator of trypsinogen, and the trypsin produced activates other zymogens, forming a mixture of proteolytic enzymes ( 2 ). EP deficiency is a rare autosomal recessively inherited disorder in the intestine that may lead to serious diarrhea, failure to thrive, and hypoproteinemia edema and malnutrition in infants ( 4 , 62 ). Hollinger et al analyzed three EKD patients from two families.…”

Section: Discussionmentioning

confidence: 99%

The Global Status and Trends of Enteropeptidase: A Bibliometric Study

et al. 2022

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BackgroundEnteropeptidase (EP) is a type II transmembrane serine protease and a physiological activator of trypsinogen. Extensive studies related to EP have been conducted to date. However, no bibliometric analysis has systematically investigated this theme. Our study aimed to visualize the current landscape and frontier trends of scientific achievements on EP, provide an overview of the past 120 years and insights for researchers and clinicians to facilitate future collaborative research and clinical intervention.MethodsQuantitative analysis of publications relating to EP from 1900 to 2020 was interpreted and graphed through the Science Citation Index Expanded of Web of Science Core Collection (limited to SCIE). Microsoft office 2019, GraphPad Prism 8, VOSviewer, and R-bibliometrix were used to conduct the bibliometric analysis.ResultsFrom 1900 to 2020, a total of 1,034 publications were retrieved. The USA had the largest number of publications, making the greatest contribution to the topic (n = 260, 25.15%). Active collaborations between countries/regions were also enrolled. Grant and Hermontaylor were perhaps the most impactful researchers in the landscape of EP. Protein Expression and Purification and the Journal of Biological Chemistry were the most prevalent (79/1,034, 7.64%) and cited journals (n = 2,626), respectively. Using the top 15 citations and co-citations achievements clarified the theoretical basis of the EP research field. Important topics mainly include the structure of EP, the affective factors for activating substrates by EP, EP-related disorders, and inhibitors of EP.ConclusionBased on the bibliometric analysis, we have gained a comprehensive analysis of the global status and research frontiers of studies investigating EP, which provides some guidance and reference for researchers and clinicians engaged in EP research.

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Section: Discussionmentioning

confidence: 99%

The Global Status and Trends of Enteropeptidase: A Bibliometric Study

et al. 2022

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“…In addition, four more variants have been reported as pathogenic in ClinVar (Figure S2). [1][2][3] EK contains eight domains and the published mutations are located at the domains of CUB (p.Q261*), MAM (p.V451Sfs*21), and trypsin-like serine protease (p.R857*, p.V903Ffs*29) respectively (Figure S2). [1][2][3] Almost all mutations are nonsense or frameshift, causing premature termination of translation and truncated C-terminal of catalytic serine protease.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] EK contains eight domains and the published mutations are located at the domains of CUB (p.Q261*), MAM (p.V451Sfs*21), and trypsin-like serine protease (p.R857*, p.V903Ffs*29) respectively (Figure S2). [1][2][3] Almost all mutations are nonsense or frameshift, causing premature termination of translation and truncated C-terminal of catalytic serine protease. [1][2][3] In the case described here, the patient's nonconsanguineous parents are both heterozygous carriers of the same TMPRSS15 mutation (p.R406*).…”

Section: Discussionmentioning

confidence: 99%

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Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica

Chen

Liu

et al. 2022

Pediatric Dermatology

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Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss‐of‐function mutations of the transmembrane protease serine 15 (TMPRSS15) gene. To date, only 12 cases of EKD have been described in the literature and skin involvement has seldom been described. We identified a novel homozygous nonsense mutation in the TMPRSS15 gene (c.1216C>T, p.R406*) in a female infant, who manifested with acrodermatitis enteropathica (AE)‐like lesions that were dramatically relieved within 11 days after initiation of a protein‐rich hydrolyzed formula. Our case shows that AE‐like rashes can be a manifestation of EKD and expands the spectrum of causative mutations in the TMPRSS15 gene.

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“…This biochemical syndrome was not connected to a gene until 2002, when mutations in what is now known as the TMPRSS15 or ENTK gene were identified in three patients (Holzinger et al 2002 ). The clinical syndrome of these patients is characterized by failure to thrive, chronic diarrhea, low serum protein, and diffuse edema starting in the first weeks of life (Haworth et al 1971 ; Holzinger et al 2002 ; Madhusudan et al 2021 ). While this disorder has been well characterized as a classic example of intestinal physiology and biochemistry, it remains extremely rare, with only about 20 cases reported since its discovery over 50 years ago (Madhusudan et al 2021 ).…”

Section: Enzymes and Metabolismmentioning

confidence: 99%

The genetics of monogenic intestinal epithelial disorders

2022

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Monogenic intestinal epithelial disorders, also known as congenital diarrheas and enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that primarily affect intestinal epithelial cell function. Patients with CoDE disorders generally present with infantile-onset diarrhea and poor growth, and often require intensive fluid and nutritional management. CoDE disorders can be classified into several categories that relate to broad areas of epithelial function, structure, and development. The advent of accessible and low-cost genetic sequencing has accelerated discovery in the field with over 45 different genes now associated with CoDE disorders. Despite this increasing knowledge in the causal genetics of disease, the underlying cellular pathophysiology remains incompletely understood for many disorders. Consequently, clinical management options for CoDE disorders are currently limited and there is an urgent need for new and disorder-specific therapies. In this review, we provide a general overview of CoDE disorders, including a historical perspective of the field and relationship to other monogenic disorders of the intestine. We describe the genetics, clinical presentation, and known pathophysiology for specific disorders. Lastly, we describe the major challenges relating to CoDE disorders, briefly outline key areas that need further study, and provide a perspective on the future genetic and therapeutic landscape.

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Enterokinase Deficiency: A Case of Pancreatic Insufficiency

Cited by 3 publications

References 2 publications

The Global Status and Trends of Enteropeptidase: A Bibliometric Study

The Global Status and Trends of Enteropeptidase: A Bibliometric Study

Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica

The genetics of monogenic intestinal epithelial disorders

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