Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion

MedEdPORTAL Publications
Irene De BiaseWendy L Hobson-Rohrer

Abstract

Inborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with patients after treatment. A basic grasp of the strengths and limitations of biochemical testing is critical for clinicians to understand test results, identify when to seek a consultation with a specialist, or explain results to patients. This resource is designed as an introduction to BCG testing for aminoacidopathies and urea cycle disorders, and includes eight cases. The resource was first developed for the Genetic Counseling Graduate Program at the University of Utah School of Medicine, and used in the last 2 years in small-group settings, where students were each engaged with one case (eight per session). Overall, students gave high ratings to the effectiveness of the examples used, and the interactive format encouraged students' questions. The resource has been tested with medical students and residents rotating through the Maternal Newborn Care Unit at the University Hospital. In this setting, a small-group case-based discussion was used. ...Continue Reading

Software Mentioned

MedEdPORTAL

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Deutsche medizinische Wochenschrift
W WILMANNS
Academic Medicine : Journal of the Association of American Medical Colleges
Larry Reimer, David J Bjorkman
Academic Medicine : Journal of the Association of American Medical Colleges
T S Shomaker, A L Betz
© 2022 Meta ULC. All rights reserved