2022
DOI: 10.1016/j.ymgmr.2022.100906
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Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency

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Cited by 2 publications
(4 citation statements)
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“…The involvement of the multidisciplinary team (MDT) is very important for the successful management [ 49 , 50 ]. This MDT comprises an intensive care team, a neurologist, a surgical team, a nutritionist, a metabolic specialist, pharmacy staff, social workers, a learning disability nurse, a hepatologist and genetic counselors [ 2 ]. The multispecialty and multidisciplinary approach facilitates an early diagnosis and comprehensive management, and results in positive clinical outcomes.…”
Section: Managementmentioning
confidence: 99%
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“…The involvement of the multidisciplinary team (MDT) is very important for the successful management [ 49 , 50 ]. This MDT comprises an intensive care team, a neurologist, a surgical team, a nutritionist, a metabolic specialist, pharmacy staff, social workers, a learning disability nurse, a hepatologist and genetic counselors [ 2 ]. The multispecialty and multidisciplinary approach facilitates an early diagnosis and comprehensive management, and results in positive clinical outcomes.…”
Section: Managementmentioning
confidence: 99%
“…The genetic counselor role is pivotal in educating the family in the inheritance of this rare disease and to help them to identify other members at risk with genetic testing [ 2 ]. Genetic testing of newborn offspring with OTC carriers is useful to genetic counselling and to inform early intervention [ 51 ].…”
Section: Managementmentioning
confidence: 99%
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“…Given its X-linked inheritance, de novo disease-causing mutations are relatively common. Additionally, females heterozygous OTCD may experience variable symptomatology due to random X-inactivation [6]. All other UCDs are inherited in an autosomal recessive manner and rarely exhibit de novo mutations.…”
Section: Primary Urea Cycle Disorders: Overviewmentioning
confidence: 99%