The Pennsylvania newborn screening experience for Pompe disease

Henderson, Nadene; Fıçıcıoğlu, Can; Ortiz, Damara; Ahrens‐Nicklas, Rebecca C.; Gordon, Patricia L.; Ieradi-Curto, Lynne; Cuddapah, Sanmati; El-Gharbawy, Areeg; Lichter‐Konecki, Uta; Sebastien, Jessica; Byers, Stephanie L; Dobrowolski, Steven F.; Higa, Leigh Ann; Vockley, Gerard; Culley, Lani

doi:10.1016/j.ymgme.2016.11.147

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“…Forty-four infants were referred for followup DNA testing based on low enzyme activity, and twelve were diagnosed as likely having late onset Pompe disease. The status of the other 17 patients is uncertain at this time, with most having variants of uncertain significance that are potentially pathogenic (26). This creates medical and ethical dilemmas regarding who will require treatment and when such treatment should be started, or even who might never become symptomatic.…”

Section: Newborn Screening a Work In Progressmentioning

confidence: 99%

Inborn errors of metabolism in the 21st century: past to present

Arnold¹

2018

Ann. Transl. Med

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The 21 st century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism). The first (and still most definitive) textbook on the subject, "The Metabolic Basis of Inherited Disease" was initially published in 1960 and covered 80 disorders in 1,477 pages. After the eighth edition of this text became unwieldy at 6,338 pages in 4 volumes covering more than 1,000 disorders, the book was changed to an online reference text with 259 chapters and is still growing. Current newborn screening on a few dried blood spots on filter paper identifies more than 1 in 2,000 newborns as having a metabolic disorder. The availability of metabolomic and genomic analyses is resulting in the diagnosis of many new disorders. Enzyme replacement therapy (ERT) has provided treatments for previously untreatable metabolic disorders, and the promise of gene therapy on the near horizon will certainly revolutionize the field.

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Section: Newborn Screening a Work In Progressmentioning

confidence: 99%

Inborn errors of metabolism in the 21st century: past to present

Arnold¹

2018

Ann. Transl. Med

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The Pennsylvania newborn screening experience for Pompe disease

Cited by 1 publication

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Inborn errors of metabolism in the 21st century: past to present

Inborn errors of metabolism in the 21st century: past to present

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