Two sistes with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development
- 1 September 1979
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 131 (3), 205-211
- https://doi.org/10.1007/bf00538944
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.Keywords
This publication has 16 references indexed in Scilit:
- Isolation and identification of aliphatic short-chain acylcarnitines from beef heart: possible role for carnitine in branched-chain amino acid metabolism.Proceedings of the National Academy of Sciences, 1977
- (2-Ethoxyethoxy)acetic acid: An unusual compound found in the gas chromatographic analysis of urinary organic acidsClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- [Isovaleric acidemia. Study and treatment in 3 brothers].1976
- Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.JCI Insight, 1976
- Therapeutic Effects of Glycine in Isovaleric AcidemiaPediatric Research, 1976
- The occurrence of adipic and suberic acid in urine from ketotic patientsClinica Chimica Acta; International Journal of Clinical Chemistry, 1972
- Isovaleric Acidemia Presenting with Altered Metabolism of GlycinePediatric Research, 1971
- Identification of β-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemiaBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1968
- NEONATAL DEATH ASSOCIATED WITH ISOVALERICACIDÆMIAThe Lancet, 1967
- Isovaleric acidemia: a new genetic defect of leucine metabolism.Proceedings of the National Academy of Sciences, 1966