Parenteral nutrition in propionic and methylmalonic acidemia.
Although propionic acidemia and methylmalonic acidemia, two disorders of branched-chain amino acid metabolism often complicated by chronic anorexia and vomiting, are not usually treated with parenteral nutrition for fear of amino acid overload and exacerbation of biochemical derangements, we gave long-term parenteral nutrition to two critically ill patients with these disorders. Health and growth were restored, and there was minimal production of abnormal metabolites. The dramatic clinical and biochemical improvement of these patients bolsters the concept that most of the toxic metabolites produced in these diseases are not related to the administered load of nutrient precursors, but rather to endogenous turnover of amino acids, particularly during a chronic catabolic state. Suppression of catabolism can produce striking biochemical and clinical improvement. With appropriate monitoring, parenteral nutrition can be used safely in the management of patients with these disorders.
Kahler
S G
SG
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
Millington
D S
DS
Cederbaum
S D
SD
Vargas
J
J
Bond
L D
LD
Maltby
D A
DA
Gale
D S
DS
Roe
C R
CR
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000628:therapy*; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*; D010289:Parenteral Nutrition, Total; D011422:Propionates / Q000097:blood*
D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid