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Grand Rounds: Newborn Screening for Inborn Error of Metabolism, Your Office or the Emergency Room?


By Abdulrazak Alali, MD , Clinical and Biochemical Geneticist, Akron Children’s Hospital, Akron, OH


More about Abdulrazak Alali, MD

Objectives (Educational Content) :

1. Summarize the process of Newborn Screening in the field of Inborn Errors of Metabolism. 2. Recognize the abnormal Newborn Screen results that require immediate attention. 3. Identify the success and the burden of the Newborn Screen in the field of Inborn Errors of Metabolism.

Target Audience:

General pediatricians, family physicians, nurse practitioners, physician assistants, social workers, psychologists and nurses

Identified Gap:

Newborn screening tests improve detection of metabolic disorders and ultimately improve outcomes with earlier treatment.

Estimated Time to Complete the Educational Activity:

1 hour

Expiration Date for CME Credit:


Method of Physician Participation in the Learning Process:

The learner will view the presentation, successfully complete a post-test and complete an activity evaluation.

Evaluation Methods:

All learners must successfully complete a post-test, as well as an activity evaluation, to claim CME credit.


Dr. Alali has indicated the following affiliation/financial interest: Consultant: Received honorarium for participation in Horizon Regional Medical Affairs UCD Advisory Board Meeting – October, 2019.

Accreditation Statement:

Children’s Hospital Medical Center of Akron is accredited by the Ohio State Medical Association to provide continuing medical education for physicians.

CHMCA designates this enduring material activity for a maximum of 125 AMA PRA Category 1 Credit TM.  Physicians should only claim the credit commensurate with the extent of their participation in the activity.


Inborn Metabolic Disease: Diagnosis and Treatment, Jean-Marie Saudubray , Mathias R. Baumgartner, and John Walter; 6th edition 

Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 4, Newborn Screening. Available from:

Int J Neonatal Screen. 2018 Sep;4(3). pii: 23. doi: 10.3390/ijns4030023. Epub2018 Jul 9.  Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools. Gelb MH(1)(2).