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PMID: 477679 Published · ppublish English Case Reports Journal Article

Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.

European journal of pediatrics ·Vol. 131 ·No. 3 ·1979-06-28 ·Pages 205-11

Duran M, van Sprang FJ, Drewes JG, Bruinvis L, Ketting D, Wadman SK

Abstract

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.

MeSH Terms
Acidosis/etiology Amino Acid Metabolism, Inborn Errors/complications,genetics Coma/etiology Female Humans Intelligence Ketosis/etiology Valerates/blood Vomiting/etiology
Chemicals
Valerates
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Duran M
van Sprang F J
Drewes J G
Bruinvis L
Ketting D
Wadman S K
References (14)
14 references, click to expand
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Article Info
Journal
European journal of pediatrics
Abbr.
Eur J Pediatr
ISSN
0340-6199
DOI
10.1007/BF00538944
Published
1979-06-28
Pages
205-11
Language
English
Region
Germany
NLM ID
7603873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00538944 View journal details
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