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Enzyme or other Deficiency

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									Enzyme or other Deficiency                                           Disease/pertinent info
Carb packet
Lactase/beta-galactosidase def.                                      Lactose Intolerance
Trehalase deficiency                                                 mushroom-poisoning symptoms
Glucose-6-phosphatase def.                                           Von Gierke
Lysosomal alpha-1, 4 glucosidase                                     Pompe (Italians have big hearts)
Debranching enzyme                                                   Forbes, Cori
Branching enzyme                                                     Andersen
Muscle glycogen phosphorylase                                        McArdle
Liver glycogen phosphorylase                                         Hers
Phosphofructokinase (PFK)                                            Tarui
Galactose-1-P uridyl transferase                                     Classical galactosemia
Galactokinase                                                        Non-classical galactosemia
Fructokinase                                                         Essential fructosuria (benign)
Aldolase B                                                           Hereditary fructose intolerance
Pyruvate kinase def. (RBC)                                           Hemolytic anemia
Glucose -6-P dehydrogenase                                           Acute or chronic hemolytic anemia, Heinz bodies
Thiamine deficiency                                                  Wernicke-Korsakoff (see vitamins for more info)
Partial def. of PDH

Fatty Acid packet
Carnitine deficiencies (systemic carnitine transporter protein,
carnitine acetyltransferaseI, Carnitine-acylcarnitine translocase,
carnitine acyltransferase II)
                                                                     Reye’s Syndrome
CPT I deficiency
CPT II deficiency
                                                                     Acute Fatty Acid Pregnancy
                                                                     Jamaican Vomiting Sickness
Acyl-CoA dehydrogenase (mitochondrial medium chain)                  Dicarboxylic Aciduria
Phytanic acid alpha-hydroxylase                             Refsum’s Disease
Peroxisomes absence                                         Zellweger’s Syndrome
Defect in peroxisomal oxidation of long chain FA            Adrenoleukodystrophy
Very long chain acyl-CoA dehydrogenase
long chain acyl-CoA dehydrogenase
Medium chain acyl-CoA dehydrogenase
Short chain acyl-CoA dehydrogenase
Long chain beta-hydroxyacyl-CoA dehydrogenase
short chain beta-hydroxyacyl-CoA dehydrogenase
ETF abnormalities or ETF dehydrogenase deficiency           MCAD disorder
                                                            Diabetic ketoacidosis
Omega-6 FA deficiency
Omega-3 fatty acid def.
DHA and arachidonic acid                                    Helps fetal brain develop

Amino Acid packet
Vit. B6                                                     Needed for pyridoxal phosphate and
                                                            Cytathione synthase (megablastic anemia)
SGPT and SGOT                                               High levels indicate heart damage
OTC                                                         Hyperammonemia I: w/ orotic acid buildup
CPS I                                                       Hyperammonemia II: w/o orotic acid buildup
Elevated BUN                                                Renal disease
Homogentisate dioxygenase (tyrosine metabolism)             Alkaptonuria
Cystathionine lyase (serine and glycine metabolism)         Cystathioninuria
Histidine ammonia lyase (histidine metabolism)              Histidinemia
Cystathione synthase, Vit. B12, folic acid, Vit. B6         Homocytinuria
Branched chain ketoacid dehydrogenase (Valine, Isoleucine   Maple syrup urine disease
pathways)
Phenylalanine hydroxylase (phenylalanine path)              Phenylketonuria (PKU)
Essential amino acid deficiency                             Hartnup: find hyperaminoacidemia to diagnose
Vit. B12, folic acid, homocysteine cycle                              Megoblastic anemias
Lack of Intrinsic Factor, therefore absence of cobalmin (vegans can   Pernicious anemia
have nutritional def. of this)
Cobalmin                                                              Megoblastic anemia, homocystinuria, etc….AND methylmalonic
                                                                      aciduria (diagnostic for Vit. B12 def. as opposed to folic acid def.)
Folic Acid Def.                                                       Megoblastic anemia, homocystinuria, etc
Pyrimidine pathway enzymes (orotate phophoribosyl transferase         Hereditary orotic aciduria (orotic aciduria w/o hyperammonemia)
and orotitdine 5’-phosphate decarboxylase)
Adenosine Deaminase                                                   SCID
Purine nucleoside phosphorylase def.                                  Selective T cell immunodeficiency
HGPRT                                                                 Lesch0Nyhan syndrome

Chemo Drugs (prevent DNA biosynthesis)                                Inhibit this enzyme
Hydoxyurea                                                            Ribonucleotide reductase
5-flurouracil (5-FU)                                                  Thymidylate synthase
Methotrexate (eukaryotes)                                             Dihydrofolate reductase
Trimethoprim (prokaryotes)
Pyrimethamine (protozoa)
Sulfamethoxazole                                                      PABA
Trimethoprim (given together for bacteria)                            DHF
6-mercaptopurine nucleotide                                           PRPP aminotransferase

Other Drug                                                            Inhibits
Allopurinol: treats gouty arthritis, Lesch-Nyhan, and cancer          Xanthine Oxidase (in gouty arthritis and Lesch-Nyhan)
                                                                      PRPP transferase (for cancer)

								
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