Am J Med Genet 1977;1(2):229-39

Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A.

Daloze P, Delvin EE, Glorieux FH, Corman JL, Bettez P, Toussi T

Abstract
Liver homotransplantation was attempted as replacement therapy in a 2-year-old
patient with near total absence of sphingomyelinase activity of Niemann-Pick
disease type A. Satisfactory function of the graft was observed until the death
of the recipient from respiratory complication 2 years after transplantation.
The clinical stigmata of the disease became less severe during the first 6
months after transplantation, with no further improvement thereafter.
Sphingomyelinase activity was restored to near normal levels in serum, was
present in cerebrospinal fluid and was maintained in the graft at normal or
supranormal levels. No accumulation of sphingomyelin was observed in the
transplanted organ as evaluated by histopathological and chromatographic
studies. These findings support the interest of organ transplantation for
long-term enzyme replacement in Niemann-Pick disease type A and similar
lysosomal deficiencies.