Methylmalonic acidemia with homocystinuria, type cblD
Other Names for this Disease
- HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED
- METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED
- METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
- METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
- CblD defect
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Tests & Diagnosis
On this page
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (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.