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Genetic and Rare Diseases Information Center (GARD)

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Methylmalonic aciduria with homocystinuria cbl f

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  • I have a cousin in China, who sadly lost his 5-month second daughter about a week ago, who died of "combined methylmalonic aciduria and homocystinuria". My cousin is very concerned about his older daughter, who is now 3.5 years old and healthy, because he has heard that this type of genetic disease could be "late-onset". Could you help me find latest info of research and treatment on this disease, especially on screening, diagnosis and treatment of "late-onset" "combined methylmalonic aciduria and homocystinuria". Any help is much appreciated! Thank you for your time. Click here for answer