Work

Unique neuroradiological findings in propionic acidemia

Year: 2018

Type: article

Abstract: Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2018.08.011

Authors: Cory M. Pfeifer, Dane C. Van Tassel, Jeffrey H. Miller

Institutions: The University of Texas Southwestern Medical Center, Valleywise Health, Phoenix Children's Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600