Inherited metabolic disorders such as Hurler’s Syndrome and Krabbe Disease are genetic conditions caused by enzyme defects that result in problems with the way the body processes metabolic substances.

Typically appearing in early childhood, these metabolic disorders affect different enzymes and cause varied types and degrees of organ and tissue damage. Although most of these disorders are rare, early diagnosis and treatment are important in order to prevent or reduce the development of serious damage, in particular, neurological damage.

The first stem cell transplant for an inherited metabolic disorder was conducted in 1980. (1)  Since then, stem cell transplantation has emerged as a long-term enzyme replacement treatment option for several metabolic disorders. (2,3,4) 

The transplants work by rebuilding a patient’s blood and immune cells with a donor’s healthy stem cells. The donor stem cells produce, secrete, and replace the missing enzyme caused by the genetic defect. (3)

Although responses to the transplant can vary, the benefit can be a constant source of enzyme replacement over the course of the patient’s lifetime. Stem cells also have the unique ability to provide enzyme therapy across the blood brain barrier to the central nervous system where neurological damage may be prevented or possibly repaired.(3)

Certain inherited metabolic syndromes are eligible for medical need-based programs, such as CBR’s Designated Treatment Program (SM), that provide free cord blood banking services for those with a family member diagnosed with a condition treatable by stem cell transplant. These programs are designed to increase access to cord blood and its many therapeutic advantages.

For more information on the Designated Treatment Program (SM) and eligibility requirements, please visit http://cordblood.com/

(1)Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet. Oct 3 1981;2(8249):709-712
(2)Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin Hematol. Jan;47(1):59-69
(3)Prasad VK, Kurtzberg J. Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant. Jan 2008;41(2):99-108.
(4)Orchard PJ, Tolar J. Transplant outcomes in leukodystrophies. Semin Hematol. Jan;47(1):70-78.