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Methylmalonicacidemia with homocystinuria, cbl D
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A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

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        • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
        • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
        • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Methylmalonicacidemia with homocystinuria, cbl D. Click on the link to go to OMIM and review these resources.
        • Genetics Home Reference (GHR) contains a condition summary on Methylmalonicacidemia with homocystinuria, cbl D. Click on the link to go to GHR and review this summary.
        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
        • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
        • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.

        • The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report.

        • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
        • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
      • The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site.  Some of these resources may be duplicated in the list of links above.  Click on the link to go to the NLM Gateway, and search by condition name.

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