scholarly journals Newborn screening and changing face of inborn errors of metabolism in the United States

2018 ◽  
Vol 6 (24) ◽  
pp. 468-468 ◽  
Author(s):  
Shibani Kanungo ◽  
Dilip R. Patel ◽  
Mekala Neelakantan ◽  
Brinda Ryali
PEDIATRICS ◽  
1983 ◽  
Vol 71 (5) ◽  
pp. 856-857
Author(s):  
THOMAS E. STARZL ◽  
THOMAS R. HAKALA ◽  
J. THOMAS ROSENTHAL ◽  
DON DENNY

There is good evidence that the decade of the 1980s will witness an expansion of efforts to transplant extrarenal organs. This will have a profound effect in pediatrics, and particularly in the field of hepatology. The number of infants born with biliary atresia is not known with certainty, but it is likely that there are approximately 500 new cases each year in the United States. The number of lethal hepatic based inborn errors of metabolism that can be effectively treated with liver replacement has steadily grown. Other acquired hepatic disorders are not uncommon in infancy and childhood. If transplantation of the liver (or of the kidney, heart, intestine, pancreas, and possibly other organs) is to reach its full potential, pediatricians will have to be more acutely aware of the need for organs, and will need to collaborate actively in the procurement process.


2020 ◽  
pp. 15-30
Author(s):  
Thomas M. Kennedy ◽  
Ghazala Q. Sharieff

An increasing incidence of newborn emergency department visits in the United States has been documented; this may be due to a higher number of home births and hospital policies directing earlier discharge of newborns from nurseries. Although many of these visits are for benign conditions, it is imperative that the emergency physician know how to manage a critically ill neonate (a newborn in the first 28 days of life). The mnemonic, THE MISFITS, provides a method for remembering many of the serious conditions that present acutely in the neonatal period: trauma (accidental trauma and child abuse), heart disease (structural and nonstructural) and hypovolemia, endocrinopathies, metabolic abnormalities (electrolyte imbalances), inborn errors of metabolism, sepsis, formula mishaps (under- or overdilution), intestinal catastrophes (e.g., necrotizing enterocolitis and midgut volvulus), toxic exposures, and seizures. This chapter provides the essential clinical information for several of these conditions.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ruixue Zhang ◽  
Rong Qiang ◽  
Chengrong Song ◽  
Xiaoping Ma ◽  
Yan Zhang ◽  
...  

AbstractExpanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.


Pathology ◽  
2017 ◽  
Vol 49 ◽  
pp. S98 ◽  
Author(s):  
Ching-wan Lam ◽  
Chun-yiu Law ◽  
Chloe Miu Mak ◽  
Wai-kwan Siu ◽  
Hencher Han-Chih Lee ◽  
...  

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