Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Peter J. Mc Guire; Elizabeth Lim-Melia; George A. Diaz; Kimiyo Raymond; Alexandra Larkin; Melissa P. Wasserstein; Claude Sansaricq

doi:10.1016/j.ymgme.2007.08.119

Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Peter J. Mc Guire, Elizabeth Lim-Melia, George A. Diaz, Kimiyo Raymond, Alexandra Larkin, Melissa P. Wasserstein, Claude Sansaricq

Research output: Contribution to journal › Article

42 Scopus citations

Abstract

Over 27 cases of liver transplant, kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed.

Original language	English (US)
Pages (from-to)	22-29
Number of pages	8
Journal	Molecular Genetics and Metabolism
Volume	93
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2007.08.119
State	Published - Jan 1 2008
Externally published	Yes

Keywords

Immunosuppression
Kidney transplantation
Liver transplantation
Metabolic stroke
Methylmalonic aciduria
Neurologic complications

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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Mc Guire, P. J., Lim-Melia, E., Diaz, G. A., Raymond, K., Larkin, A., Wasserstein, M. P., & Sansaricq, C. (2008). Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature. Molecular Genetics and Metabolism, 93(1), 22-29. https://doi.org/10.1016/j.ymgme.2007.08.119

Combined liver-kidney transplant for the management of methylmalonic aciduria : A case report and review of the literature. / Mc Guire, Peter J.; Lim-Melia, Elizabeth; Diaz, George A.; Raymond, Kimiyo; Larkin, Alexandra; Wasserstein, Melissa P.; Sansaricq, Claude.

In: Molecular Genetics and Metabolism, Vol. 93, No. 1, 01.01.2008, p. 22-29.

Research output: Contribution to journal › Article

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abstract = "Over 27 cases of liver transplant, kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed.",

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