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PMID: 985038 Published · ppublish fre Case Reports English Abstract Journal Article

[Isovaleric acidemia. Study and treatment in 3 brothers].

Acidémie isovalérique. Etude et traitement chez trois freres

Archives francaises de pediatrie ·Vol. 33 ·No. 8 ·1976-10-00 ·Pages 795-808

Saudubray JM, Sorin M, Depondt E, Herouin C, Charpentier C, Pousset JL

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.

MeSH Terms
Amino Acid Metabolism, Inborn Errors/diagnosis,genetics,therapy Amino Acids/therapeutic use Fatty Acids, Volatile/analysis Female Humans Infant Infant, Newborn Leucine/metabolism,therapeutic use Male Oxidoreductases/deficiency Peritoneal Dialysis Sweat/analysis Valerates
Chemicals
Amino Acids Fatty Acids, Volatile Valerates Oxidoreductases Leucine
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Saudubray J M
Sorin M
Depondt E
Herouin C
Charpentier C
Pousset J L
Article Info
Journal
Archives francaises de pediatrie
Abbr.
Arch Fr Pediatr
ISSN
0003-9764
Published
1976-10-00
Pages
795-808
Language
fre
Region
France
NLM ID
0372421
Subset
IM
External Links
PubMed source
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