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3-hydroxy-3-methylglutaryl-CoA lyase deficiency / Newborn screening / Biotin / 3-hydroxy-3-methylglutaryl-CoA lyase / Holocarboxylase synthetase / Health / Genetics / Medicine


NEWBORN SCREENING FACT SHEET HMG Lyase Deficiency (3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency) If HMG lyase deficiency is not treated, what problems occur? Each child with HMG lyase deficiency will
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Document Date: 2009-02-19 11:31:58


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City

Bismarck / Edgeley / Grand Forks / Minot / /

Company

North Dakota Inc. / /

Country

United States / /

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Facility

Rural Health University of North Dakota School / /

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IndustryTerm

carrier testing / food / energy / food containing leucine / /

MedicalCondition

Inherited Metabolic Diseases / Seizures / Coma / Nausea / Holocarboxylase deficiency / organic acid disorder / Muscle weakness / Learning disabilities / skin infections / disorder / Diarrhea / illness / Hearing loss / Hypoglycemia / HLCS deficiency / ataxia / Lyase Deficiency / mental retardation / HMG lyase deficiency / metabolic acidosis / NEWBORN SCREENING FACT SHEET HMG Lyase Deficiency / Poor appetite / Fever / Vomiting / If HMG lyase deficiency / Multiple carboxylase deficiency / /

Organization

www.climb.org.uk Save Babies Through Screening Foundation / University of North Dakota School of Medicine / North Dakota Department of Health Newborn Screening Program / Organic Acidemia Association / Genetic Alliance / ND Pathfinder Family Center / Family Network Center / Department of Health / /

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Position

genetic counselor / /

ProvinceOrState

North Dakota / /

URL

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

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