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Six Month Competency for 5600 Techs (New Trainees)

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Six Month Competency for 5600 Techs (New Trainees) CLINICAL SIGNIFICANCE of PLASMA AND CSF AMINO ACIDS: Deficiency of a single enzyme in a metabolic pathway may produce its effects in several ways: (A) accumulation of the substrate acted on by the enzyme; (B) deficiency of the products of the enzyme reaction; (C) diversion through an alternative pathway, leading to production of abnormal or abnormally concentrated metabolites. Aminoacidopathies may be specific (a genetic defect involving one or a group of related amino acids) or nonspecific involving a number of unrelated amino acids). Examples: an elevation of alanine and tyrosine in plasma would indicate tyrosinemia (alanine is a precursor to tyrosine); an elevation of many amino acids is frequently seen in patients with liver disorders. However, a diet high in fowl (chicken, turkey) may result in an asymptomatic elevation of methylhistidine. Clinical symptoms of aminoacidopathies are usually identified early in life due to comprehensive newborn screening programs and may include lethargy, hyperactivity, retarded mental and physical development, convulsions, and early death. Clinical Interest and Association of Amino Acids with Inborn Errors and Other Disorders Amino acid(s) Disorder(s), other (diet, age, etc) Alanine Tyrosinemia (p), transport defects* (u) Alloisoleucine MSUD (p) (Pathognomonic for MSUD) Anserine Carnosinemia (u); high meat diet Arginine Hyperargininemia (p), transport defects* (u) Argininosuccinic Acid Argininosuccinic Aciduria (u); hyperornithinemia Aspartic Acid Dicarboxylic aminoaciduria (u) Carnosine Carnosinemia (u); high meat diet Citrulline Citrullinemia (p,u); arginosuccinic aciduria (u); hyperargininemia (u) Cystathionine Cystathionuria (u); young infants (u); hyperammonemia; neuroblastoma; liver cirrhosis Cystine Cystinuria (u), Cystinemia (p), Hyperargininemia (p), Cystinlysinuria (u) Glutamine Hyperamonemia associated with urea cycle Glycine Non-Ketotic hyperglycinemia (p,u,c); organic acidopathies (p,u); transport defects*; valproic acid (u) Histidine Histidinemia (p,u), chicken/fowl diet (p,u) Homocystine Homocystinuria (u), methionine (p 5-100 x normal), CSF homocystine elevated, methymalonic aciduria, cystathionine synthetase deficiency Hydroxyproline Hydroxyprolinemia (u), newborns, chronic uremia, bone disease (u) Isoleucine MSUD (i,p); ketotic hypoglycemia (p,u), chronic liver disease (p,u) Leucine See isoleucine Lysine Hyperlysinemia (p,u); transport defect*(u), cystinuria (u) Methionine Homocystinuria (u); methionine adenyl transferase deficiency (p,u); tyrosinosis (u) 1-methylhistidine Chicken, fowl diet, starvation (u) 3-methylhistidine Chicken, fowl diet, starvation (u) Ornithine Hyperornithinemia (p), hyperammonemia (p), homocitrullinuria (u), associated with increased glutamine (p,u) Phenylalanine PKU and variants (p,u); transient tyrosinemia (p,u); tyrosinemia (p,u) Phosphoethanolamine Hypophosphatasia (u) Proline Hyperprolinemia (p,u); maturational defect Serine (decrease p) phosphoserine aminotransferase deficiency, serine deficiency, (increase u) Hartnujp Threonine (increase p,c) pyridoxamine 5’-phosphate deficiency, (u) Hartnup Taurine Acute liver failure (u); high protein intake (u); maturational delay in prematures (u,p) Tryptophan Hartnup's disease (u) Tyrosine Tyrosinemia (p,u), Tyrosinosis (p,u), chronic liver disease (p,u); transient neonatal tyrosinemia (p); generalized amino aciduria* (u); Fructosemia (u) Valine MSUD (u,p); hypervalinemia (p) *Hartnup's Disease, Fanconi syndrome, Renal Tubular Aminoaciduria u = urine amino acid elevated p = plasma amino acid elevated c = CSF 2 .
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