Abstract
Three siblings, born to unrelated parents, had hypermethioninemia, failure to thrive, mental retardation, facial dysmorphy and non obstructive cardiomyopathy. Unrestricted diet or methionine load resulted in hypoglycemia, hepatic failure and prolonged increase in methiontnemia. Conversely, biologic data were improved under a methionine restricted diet (40 mg/kg/day) but clinical data were only partially responsive. Hepatic S-adenosylhomocysteine hydrolase activity was decreased by 80 % in the 3 children. It was not possible to determine if the enzyme deficiency is responsible for the disease or secondary to an unknown metabolic deficit since S-adertosylhomocysteine has never been found in urine specime of either patient. This possible new inborn error in methionine metabolism is different from the hypermethioninemias previously published.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
