PMID: 3769994Sep 1, 1986Paper

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction

European Journal of Pediatrics
Y SakaguchiT Hayashi

Abstract

A patient with a deficiency of dihydrolipoyl dehydrogenase and neurological disease is described. The patient was placed on a branched-chain amino acid-restricted regimen. After the introduction of the regimen, there were some biochemical improvements and he achieved some developmental milestones, in contrast to previously reported patients whose neurological disease was progressive. Restriction of the branched-chain amino acids is worth trying among therapeutic measures for this disease, although restriction of the amino acids alone may not totally prevent progression of neurological disease.

References

Mar 1, 1970·The Journal of Clinical Investigation·J P BlassB W Uhlendorf
Sep 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·T KuharaI Matsumoto

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Citations

Jan 1, 1992·Journal of Inherited Metabolic Disease·B MerineroM Ugarte
Jan 1, 1986·Journal of Inherited Metabolic Disease·M YoshinoF Yamashita
Jul 1, 1990·European Journal of Pediatrics·O N ElpelegD Branski
Mar 6, 2009·Journal of Inherited Metabolic Disease·K J Skvorak
Sep 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·T KuharaI Matsumoto
Oct 22, 2003·Molecular Genetics and Metabolism·Mary M NellisDean J Danner
Jun 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·T C LiuM S Patel
May 1, 1997·Journal of Pediatric Gastroenterology and Nutrition·I AptowitzerO N Elpeleg
Oct 4, 2008·The Tohoku Journal of Experimental Medicine·Hiroko TsunodaKazuhito Yokoyama

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