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Excretion pattern of branched‐chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia
Author(s) -
KØlvraa S.,
Gregersen N.,
Christensen E.,
Rasmussen K.
Publication year - 1980
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02312526
Subject(s) - methylmalonic acid , excretion , medicine , methylmalonic acidemia , metabolic disease , human genetics , chemistry , biochemistry , vitamin b12 , gene
A 1‐year‐old boy with a typical B 12 ‐responsive form of methylmalonic acidaemia was hospitalized twice due to acute bacterial infections. On both occasions, the child was lethargic with a severe ketoacidosis on admission. Intensive therapy with protein restriction, intravenous administration of electrolytes and antibiotics was effective within 4 days on both occasions. The urinary excretion of organic acids showed the same pattern on both occasions. There were rising excretion concentrations, reaching a peak value within the first 24‐hour period, for the following compounds: 3‐hydroxybutyric acid, 3‐hydroxypropionic acid, 3‐hydroxyisobutyric acid and 3‐hydroxyisovaleric acid. Excretion concentrations of the following rose for 48 h: isobutyric acid, 2‐methylbutyric acid, isovaleric acid, lactic acid and the 2‐oxo‐acids. There was no increase until 12–24 h after the onset of severe illness in the excretion of propionic acid and methylmalonic acid. Propionic acid excretion was maximal at about 48 h, while peak excretion of methylmalonic acid was delayed until about 72 h after the onset of severe illness; at this time there was clinical improvement. The biochemical implications of this excretion pattern are discussed.