Inborn Metabolic Diseases by Jean-Marie Saudubray Matthias R. Baumgartner & John Walter

Author:Jean-Marie Saudubray, Matthias R. Baumgartner & John Walter
Language: eng
Format: epub
Publisher: Springer Berlin Heidelberg, Berlin, Heidelberg

10.3 Genetics

EE is a rare autosomal recessive disorder caused by mutations in ETHE1. No genotype-phenotype correlation has been established [37].

10.4 Diagnostic Tests

Ethylmalonic acid and C4- and C5-acylglycines are consistently present in urine, with raised C4- and C5-acylcarnitines in blood. Urinary thiosulfate is also markedly elevated. The diagnosis is confirmed by mutation analysis of ETHE1.

10.5 Treatment and Prognosis

Treatment has been undertaken with metronidazole (to reduce bacterial H2S production) and N-acetylcysteine (a precursor of glutathione, which can accept the sulfur atom of H2S). Though this leads to some clinical and biochemical improvement [38], the prognosis remains poor. Recently, a better outcome has been reported following liver transplantation [39].

Acknowledgements

We would like to thank Drs. Persephona Augoustides-Savvopoulou, Roberto Cerone, Andrej Kutarňa Jitka Sokolová, Sally Stabler and Sufin Yap for helpful discussion and assistance with manuscript preparation.

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