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  • Title: [Isovaleric acidemia. Study and treatment in 3 brothers].
    Author: Saudubray JM, Sorin M, Depondt E, Herouin C, Charpentier C, Pousset JL.
    Journal: Arch Fr Pediatr; 1976 Oct; 33(8):795-808. PubMed ID: 985038.
    Abstract:
    The cases of 3 sibs presenting with isovaleric acidemia are reported. The first infant died when he was 9 day-old. The two others appear to have benefited from a controlled leucine diet which was introduced from the first days on of life. The clinical symptomatology, highly typical of the disease, is described. Diagnosis was not assessed on amino-acids chromatography but on the chromatography of volatile fatty acids. The mode of treatment is described: peritoneal dialysis, with the object of rounding a crucial cape, and overall controlled leucine diet, but supplemented by essential amino-acids.
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