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Management of Pregnancy in Cystathionine Beta-synthase Deficiency by K Arduini; L Hitchins; D Bartke is a Medicine article available to read on EtoBox.

What is Management of Pregnancy in Cystathionine Beta-synthase Deficiency about?

Background: In México, the prevalence of Inborn Metabolic Disorder is estimated in about 2:1,000 to 34:10,000 newborns. It has been reported that the area with higher incidence of IMD is located in the northern part of Jalisco state (Los Altos de Jalisco). Since 2010, the Clinical Nutrition Service of the Hospital Civil de Guadalajara "Fray Antonio Alcalde" has been promoted the early diagnosis of IMD due to the lack of people dedicated to treat this kind of disease. With the support of other medical services, it has increased the investigation of the diagnosis, considering the clinical manifestations, promoting the extended newborn screening and the genetic studies for the most accurate diagnosis. Methods: A retrospective search of the patients with IMD in the Clinical Nutrition Service was performed in the period of 2010 to 2021. These patients were referred from different specialists and institutions to the Clinical Nutrition Service to get nutritional care and treatment. Patients without a proven or suspected diagnosis of IMD were excluded. Results: In this period of time, 53 patients has been attended, 60% of them present an accumulation and intoxication of small molecules typ

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Author

K Arduini; L Hitchins; D Bartke

Publisher

Elsevier BV

Published

2022

Language

EN

Field

Medicine (Health Sciences)