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

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.

Fig. 1

Anthropometric parameters from CDC growth charts in patient with MMA: (a) weight; (b) height.

Fig. 2

Serum bicarbonate levels pre- and post-CKLT.

Fig. 3

Serum (a) and urine (b) methylmalonic acid pre- and post-CKLT.

Fig. 4

Serum creatinine levels pre- and post-CKLT.

Fig. 5

MRI brain studies of patient with MMA. (a) Axial flair demonstrating infraction of the lenticular nuclei bilaterally. (b) Axial T2 image demonstrating a right cerebellar infarct.