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 | |
| State | Published - Jan 2008 |
| Externally published | Yes |
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Keywords
- Immunosuppression
- Kidney transplantation
- Liver transplantation
- Metabolic stroke
- Methylmalonic aciduria
- Neurologic complications
ASJC Scopus subject areas
- Biochemistry
- Genetics
- Endocrinology, Diabetes and Metabolism
Cite this
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, 01.2008, p. 22-29.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Combined liver-kidney transplant for the management of methylmalonic aciduria
T2 - A case report and review of the literature
AU - Mc Guire, Peter J.
AU - Lim-Melia, Elizabeth
AU - Diaz, George A.
AU - Raymond, Kimiyo
AU - Larkin, Alexandra
AU - Wasserstein, Melissa P.
AU - Sansaricq, Claude
PY - 2008/1
Y1 - 2008/1
N2 - 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.
AB - 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.
KW - Immunosuppression
KW - Kidney transplantation
KW - Liver transplantation
KW - Metabolic stroke
KW - Methylmalonic aciduria
KW - Neurologic complications
UR - http://www.scopus.com/inward/record.url?scp=36849006432&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=36849006432&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2007.08.119
DO - 10.1016/j.ymgme.2007.08.119
M3 - Article
C2 - 17964841
AN - SCOPUS:36849006432
VL - 93
SP - 22
EP - 29
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 1
ER -