Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?
JL Sloan, I Manoli, CP Venditti - The Journal of pediatrics, 2015 - jpeds.com
The hereditary disorders of vitamin B12 (cobalamin) and methylmalonic acid metabolism
comprise a major group of organic acid disorders that are collectively common inborn errors
of metabolism. 1 Affected patients are medically fragile and suffer multisystemic
complications, such as lethal metabolic instability, metabolic stroke, pancreatitis, end-stage
renal failure, growth impairment, osteopenia, optic nerve atrophy, and neurocognitive delay.
2 The frequency of these complications and their precipitants, long-term sequelae, and …
comprise a major group of organic acid disorders that are collectively common inborn errors
of metabolism. 1 Affected patients are medically fragile and suffer multisystemic
complications, such as lethal metabolic instability, metabolic stroke, pancreatitis, end-stage
renal failure, growth impairment, osteopenia, optic nerve atrophy, and neurocognitive delay.
2 The frequency of these complications and their precipitants, long-term sequelae, and …