Amino acid disorders definition

Amino acid disorders means disorders of metabo- lism characterized by the body's inability to correctly process amino acids or the inability to detoxify the ammonia released during the breakdown of amino acids. The accumulation of amino acids or their by-products may cause severe complica- tions including mental retardation, coma, seizures, and possi- bly death. For the purpose of this chapter amino acid disor- ders include: Argininosuccinic acidemia (ASA), citrul- linemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I).
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Amino acid disorders means disorders of metabolism charac- terized by the body's inability to correctly process amino acids or the inability to detoxify the ammonia released during the breakdown of amino acids. The accumulation of amino acids or their by-products may cause severe complications including mental retardation, coma, seiz- ures, and possibly death. For the purpose of this chapter amino acid disorders include: Argininosuccinic acidemia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenyl- ketonuria (PKU), and tyrosinemia type I (TYR I).
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Amino acid disorders means argininosuccinic acidemia (ASA), citrullinemia type I (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I), which may cause severe complications including intellectual disabili- ty, coma, seizures, and possibly death.
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Examples of Amino acid disorders in a sentence

  • The 28 metabolic disorders currently screened for by the NMSP are:• Amino acid disorders (14 disorders, including PKU and MSUD)• Fatty acid oxidation disorders (9 disorders)• Others:› Congenital hypothyroidism› Cystic fibrosis› Congenital adrenal hyperplasia› Galactosaemia› Biotinidase deficiency.

  • Amino acid disorders include 6 Core Conditions (ASA, CIT-1, HCY, MSUD, PKU, and TYR-1) and 8 Secondary Conditions (ARG, BIOPT-BS, BIOPT-RG, CIT-2, H-PHE, MET, TYR-2, and TYR-3).Fatty Acid Oxidation Disorders (FAOD)Fatty Oxidation Disorders are genetic metabolic deficiencies in which a missing or malfunctioning enzyme prevents the body's oxidizing (breakdown) of fatty acids to make energy.


More Definitions of Amino acid disorders

Amino acid disorders means argininosuccinic aci- demia (ASA), citrullinemia type I (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I), which may cause severe complications including intellectual disability, coma, seizures, and possibly death.
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Amino acid disorders means ((disorders of metab- olism characterized by the body's inability to correctly pro- cess amino acids or the inability to detoxify the ammonia released during the breakdown of amino acids. The accumu- lation of amino acids or their by-products may cause severe complications including intellectual disability, coma, sei- zures, and possibly death. For the purpose of this chapter amino acid disorders include:)) argininosuccinic acidemia (ASA), citrullinemia type I (CIT), homocystinuria (HCY),
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