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New England Consortium of Metabolic Programs

WEBThis guide is for women with phenylketonuria (PKU) who are planning a pregnancy or who already are pregnant. With careful planning and the right diet, health care, and …

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URL: https://www.newenglandconsortium.org/

An Educator's Guide to PKU

WEBPhenylketonuria, or PKU, is an inherited metabolic disorder that affects about 1 in every 10,000 people in the United States. Individuals with PKU are unable to break down …

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Acute Illness Materials

WEBThese acute illness material are guidelines for healthcare professionals treating newborns and children at risk for serious metabolic defects, including urea cycle disorders, fatty …

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Ornithine Transcarbamylase (OTC) Deficiency

WEBYou can manage OTC deficiency throughout your life with a special low-protein diet, drug therapy, and ongoing health care. OTC deficiency is also sometimes called ornithine …

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Galactosemia: Resources for Educators — New England …

WEBAcknowledgements. Developed at Boston Children’s Hospital by Hilary Goldfarb, MA, and Dr. Susan Waisbren, Director of the New England Consortium of Metabolic Programs.. …

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Understanding Genetics

WEBUnderstanding Genetics. The Genetic Alliance, based in Washington DC, is one of the world’s leading nonprofit health advocacy organizations.The organization engages …

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Regional Resources

WEByale . Clinical Genetics Yale University School of Medicine 20 York Street New Haven, CT Phone: 203-785-2660 Option 1

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Health Care Resources — New England Consortium of …

WEBNewborn Screening Protocols. The American College of Medical Genetics has formed a work group of professionals in the field of newborn screening, including metabolic …

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About Us — New England Consortium of Metabolic Programs

WEBThe New England Consortium of Metabolic Programs brings together healthcare professionals at all levels involved in identifying and treating individuals with metabolic …

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MSUD — New England Consortium of Metabolic Programs

WEBMSUD, also known as maple syrup urine disease, is an organic acid disorder caused by a defect in the metabolism of a specific group of amino acid called branched chain amino …

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Membership — New England Consortium of Metabolic Programs

WEBMembership. Our membership includes over 100 professionals including directors of each of the metabolic centers in New England, physicians and fellows, social workers, nurses, …

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Guide to Galactosemia and Primary Ovarian Insufficiency (POI) — …

WEBWhat is POI? POI (sometimes called premature ovarian failure or POF) is a term used by doctors when a woman is under 40 and her ovaries are not working normally.This …

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Transition Toolkit — New England Consortium of Metabolic …

WEBThe Boston Children’s Hospital Transition Toolkit was created for teenagers who are transitioning to adulthood, and who are ready to be in charge of managing their …

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Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

WEBThe pathophysiological process begins with reduced glucose intake as a result of a fasting state or increased energy needs from a catabolic state (e.g., infection, fever, stress, etc.).

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CPT I Deficiency — New England Consortium of Metabolic Programs

WEBCPT I deficiency, also known as carnitine palmitoyltransferase I deficiency, is a fatty acid oxidation disorder (FAOD). It is a defect in one of the enzymes involved in the …

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Maple Syrup Urine Disease (MSUD)

WEBMaple Syrup Urine Disease (MSUD) is an autosomal recessive organic acid/amino acid disorder due to a defect in the Branched Chain Ketoacid Dehydrogenase (BCKD) …

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Newborn Screening Guide for Prenatal Educators

WEBNewborn Screening is a simple test done by taking a few drops of blood from every baby’s heel. It is usually done within 24 to 48 hours after a baby is born. The American College …

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Newborn Screening Prenatal Curriculum — New England …

WEBObjectives: Describe the likelihood of a false-positive test results and alleviate parental anxiety when follow-up to newborn screening is needed. The majority of repeat tests do …

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