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

Krabbe ACT Sheet (Infantile)

Pdf Summary

The ACT Sheet is a practice resource for medical geneticists and clinicians to provide quality medical services, but adherence to it is voluntary and does not guarantee successful outcomes. It is not an exhaustive guide and clinicians should use their own judgment based on individual patient circumstances. The resource suggests documenting reasons for using specific procedures or tests and considering the date of adoption and other available medical information. Intellectual property interests may also restrict certain tests and procedures.<br /><br />The content of the ACT Sheet focuses on Krabbe disease, specifically the infantile form. Krabbe disease is a lysosomal disorder caused by a deficiency of galactocerebrosidase, leading to impaired myelin turnover and eventual loss of cells. Symptoms typically present before the first year of life, and if left untreated, survival beyond age 2 years is uncommon.<br /><br />Immediate actions recommended for healthcare professionals include informing the family of the newborn screening result, consulting or referring to a pediatric metabolic and transplant specialist, evaluating the newborn, initiating confirmatory/diagnostic testing, providing basic information about Krabbe disease management to the family, and reporting the final diagnostic outcome to the newborn screening program.<br /><br />Diagnostic evaluation involves measuring leukocyte galactocerebrosidase enzyme activity and erythrocyte psychosine concentration. Decreased enzyme activity suggests Krabbe disease, but further testing is required for confirmation. Molecular genetic testing can provide a definitive diagnosis. The clinical presentation of Krabbe disease varies, ranging from rapidly progressive infantile forms to later-onset variants. Hematopoietic stem cell transplantation is the only available therapy and is most effective when performed early.<br /><br />Saposin A deficiency, which closely resembles Krabbe disease, may also be detectable through newborn screening. Additional resources mentioned include communication guides for newborn screening results, Gene Reviews, Medline Plus, and the HRSA Newborn Screening Clearinghouse for condition information. Referral options are provided through the Find a Genetics Clinic Directory and the Genetic Testing Registry.

Keywords

ACT Sheet

Krabbe disease

galactocerebrosidase deficiency

infantile form

newborn screening

diagnostic testing

hematopoietic stem cell transplantation

Saposin A deficiency

communication guides

Genetic Testing Registry