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Rare diseases / Phenylketonuria / Newborn screening / Urea cycle disorder / Hypermethioninemia / Maple syrup urine disease / Amino acid / Protein / Citrullinemia / Health / Medicine / Genetic genealogy


AMINO ACID DISORDERS Karla J Matteson, PhD, FACMG University of Tennessee Genetic Center, Knoxville Outcome without screening: The amino acid disorders are a collection of disorders that involve enzyme deficiencies that
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Document Date: 2006-10-30 12:08:43


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Facility

FACMG University of Tennessee Genetic Center / /

IndustryTerm

pharmaceutical supplements / treatment of these disorders / /

MedicalCondition

moderate enzyme deficiency / mental retardation / several different disorders / seizures / toxic encephalopathy / coma / amino acid disorder / Citrullinemia / urea cycle disorder / common disorder / lethargy / Cystathione beta synthase deficiency / vomiting / Maple Syrup Urine Disorder / oculocutaneous tyrosinemia / Tyrosinemia / severe illness / disorder / PKU / autosomal recessive disorders / amino acid disorders / clinically more severe disorder / disorder homocystinuria / deficiency / phenylketonuria / illness / disorders / Homocystinuria / hepatorenal tyrosinemia / /

MedicalTreatment

adjunctive therapies / hemodialysis / surgery / /

Organization

Tennessee Genetic Center / FACMG University / University of Tennessee / /

Person

Karla J Matteson / /

Position

nutritionist / /

ProvinceOrState

Tennessee / /

Technology

diagnostic tests / /

SocialTag