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J Pediatr. 2015 Jun;166(6):1455-61.e1. doi: 10.1016/j.jpeds.2015.01.051. Epub 2015 Mar 11.

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Author information

1
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA. Electronic address: annakaisa.niemi@gmail.com.
2
Division of Abdominal Transplantation, Department of Surgery, Stanford University, Stanford, CA.
3
Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Stanford, CA.
4
Department of Pathology, Stanford University, Stanford, CA.
5
Lucile Packard Children's Hospital at Stanford, Stanford, CA.
6
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA; Prenatal Diagnostics, Department of Obstetrics and Gynecology, University of California, San Francisco, San Francisco, CA.
7
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.

Abstract

OBJECTIVE:

To assess biochemical, surgical, and long-term outcomes of liver (LT) or liver-kidney transplantation (LKT) for severe, early-onset methylmalonic acidemia/acid (MMA).

STUDY DESIGN:

A retrospective chart review (December 1997 to May 2012) of patients with MMA who underwent LT or LKT at Lucile Packard Children's Hospital at Stanford.

RESULTS:

Fourteen patients underwent LT (n = 6) or LKT (n = 8) at mean age 8.2 years (range 0.8-20.7). Eleven (79%) were diagnosed during the neonatal period, including 6 by newborn screening. All underwent deceased donor transplantation; 12 (86%) received a whole liver graft. Postoperative survival was 100%. At a mean follow-up of 3.25 ± 4.2 years, patient survival was 100%, liver allograft survival 93%, and kidney allograft survival 100%. One patient underwent liver re-transplantation because of hepatic artery thrombosis. After transplantation, there were no episodes of hyperammonemia, acidosis, or metabolic decompensation. The mean serum MMA at the time of transplantation was 1648 ± 1492 μmol/L (normal <0.3, range 99-4420). By 3 days, post-transplantation levels fell on average by 87% (mean 210 ± 154 μmol/L), and at 4 months, they were 83% below pre-transplantation levels (mean 305 ± 108 μmol/L). Developmental delay was present in 12 patients (86%) before transplantation. All patients maintained neurodevelopmental abilities or exhibited improvements in motor skills, learning abilities, and social functioning.

CONCLUSIONS:

LT or LKT for MMA eradicates episodes of hyperammonemia, results in excellent long-term survival, and suggests stabilization of neurocognitive development. Long-term follow-up is underway to evaluate whether patients who undergo early LT need kidney transplantation later in life.

PMID:
25771389
DOI:
10.1016/j.jpeds.2015.01.051
[Indexed for MEDLINE]

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