NCC Knowledge Nugget Series: Krabbe ACT Sheets-Krabbe ACT Sheet (Later-Onset)

Krabbe ACT Sheet (Later-Onset)

Pdf Summary

This document is an ACT Sheet, a practice resource for medical geneticists and clinicians. It provides information on Krabbe disease, specifically the late-onset form. Krabbe disease is a lysosomal disorder caused by a deficiency of galactocerebrosidase, resulting in the impaired turnover of myelin and the eventual loss of oligodendrocytes and Schwann cells. The severity and age of onset can vary.<br /><br />The recommended actions for clinicians include informing the family of the newborn screening result, consulting with a pediatric metabolic specialist, evaluating the newborn through physical examination, and initiating confirmatory/diagnostic testing. Clinicians are also advised to provide the family with basic information about Krabbe disease and its management and to report the final diagnostic outcome to the newborn screening program.<br /><br />Diagnostic evaluation for Krabbe disease involves measuring leukocyte galactocerebrosidase enzyme activity and erythrocyte psychosine concentration. Molecular genetic testing can confirm the diagnosis. It is important to note that this screening result is more likely associated with the late-onset forms of Krabbe disease. The only available therapy is hematopoietic stem cell transplantation.<br /><br />The document provides additional resources for communicating newborn screening results, as well as links to gene reviews, Medline Plus, and the HRSA Newborn Screening Clearinghouse for further information. It also includes referral resources such as a Genetics Clinic Directory and the Genetic Testing Registry.<br /><br />Please note that adherence to this practice resource is voluntary, and clinicians should use their professional judgment and consider other medical and scientific information available. The document also mentions the need to be aware of intellectual property interests that may restrict certain tests and procedures.

Keywords

Krabbe disease

late-onset form

lysosomal disorder

galactocerebrosidase deficiency

newborn screening

diagnostic testing

molecular genetic testing

hematopoietic stem cell transplantation

communication of screening results

Genetics Clinic Directory