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Fatty-acid metabolism disorder / Hepatology / Carnitine / Newborn screening / Carnitine-acylcarnitine translocase deficiency / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Medicine / Rare diseases


NEWBORN SCREENING FACT SHEET CPT-2 Deficiency (Carnitine Palmitoyl Transferase Deficiency, CACT, Type 2) in infancy. Most people do not have symptoms until their teen years or early adulthood. This is called classic form
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Document Date: 2009-02-19 11:31:59


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City

Bismarck / Grand Forks / /

Company

Family Support Group / /

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Facility

Rural Health University of North Dakota School / /

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IndustryTerm

medium chain / sugary food / carrier testing / chain triglyceride oil / oil / food / deficiency carrier / energy / travel letter / starchy food / food plan / /

MedicalCondition

Carnitine Palmitoyl Transferase Deficiency / Inherited Metabolic Diseases / Fatty Oxidation Disorders / Seizures / Enlarged heart / Coma / Muscle weakness / CPT2 deficiency / disorder / Diarrhea / CPT-II deficiency / illness / hypoglycemia / Cramps / fatty acid oxidation disorder / Cataracts / Kidney cysts / Poor appetite / muscle pain / Fever / Vomiting / kidney failure / Muscle aches / infection / Deficiency / /

MusicGroup

Energy / /

Organization

University of North Dakota School of Medicine / North Dakota Department of Health Newborn Screening Program / Genetic Alliance / US Federal Reserve / ND Pathfinder Family Center / Family Network Center / Department of Health / /

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Position

dietician / genetic counselor / /

ProvinceOrState

North Dakota / /

URL

www.ndhealth.gov / www.umdf.org / www.medicine.nodak.edu/crh / www.climb.org.uk / www.oaanews.org / www.ndhealth / www.fodsupport.org / www.geocities.com/ndfv / www.pathfinder.minot.com / www.ndhealth.gov/familyhealth / www.geneticalliance.org / /

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