Bone marrow transplantation in glycogen storage disease type 1b

Germaine Pierre; Geothy Chakupurakal; Patrick McKiernan; Chris Hendriksz; Sarah Lawson; Anupam Chakrapani

doi:10.1016/j.jpeds.2007.09.031

Bone marrow transplantation in glycogen storage disease type 1b

J Pediatr. 2008 Feb;152(2):286-8. doi: 10.1016/j.jpeds.2007.09.031.

Authors

Germaine Pierre¹, Geothy Chakupurakal, Patrick McKiernan, Chris Hendriksz, Sarah Lawson, Anupam Chakrapani

Affiliation

¹ Department of Inherited Metabolic Disease, Birmingham Children's Hospital NHS Trust, Birmingham, United Kingdom.

PMID: 18206704
DOI: 10.1016/j.jpeds.2007.09.031

Abstract

We report a case of glycogen storage disease type 1b that was successfully treated with bone marrow transplantation after life-threatening complications related to neutropenia and thrombocytopenia. Concomitant reduction in inflammatory bowel disease-related symptoms and improved metabolic stability were also observed.

Publication types

Case Reports

MeSH terms

Bone Marrow Transplantation / methods*
Child
Consanguinity
Glucose-6-Phosphatase / genetics
Glycogen Storage Disease Type I / diagnosis
Glycogen Storage Disease Type I / therapy*
Homozygote
Humans
Infant
Male
Mutation
Neutropenia / metabolism
Treatment Outcome

Substances

Glucose-6-Phosphatase