Glossary of biochem - diseases test 3

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Glycogen Storage diseases
Type I (Von Gierke)-
Glucose-6-Phosphate deficiency
S = Affects liver. Hepatomegaly, dwarfism, severe hypoglycemia, hyperlipidemia
P = Glycogenolysis for all Glycogen storage diseases.
Glycogen Storage diseases
Type II (Pompe)
Lysosomal a-1,4 glucosidase
S = Affects all organs. Cardiomegaly, hepatomegaly.
P = Glycogenolysis for all Glycogen storage diseases.
Glycogen Storage diseases
Type V (McArdle)
Muscle Glycogen Phosphorylase
S = Affects skeletal muscle. Weakness, cramps on exercise with NO increase in blood lactate
P = Glycogenolysis for all Glycogen storage diseases.
Glycogen Storage diseases
Type VI (Hers)
Liver Glycogen Phosphorylase
S = Affects liver. Hepatomegaly, normal spleen, mild hypoglycemia, no acidosis.
P = Glycogenolysis for all Glycogen storage diseases.
Non classical galactosemia
Galactokinase deficiency
S = galactosemia, galactosuria, cataracts
P = Hepatic interconversion of galactose to glucose
Classical Galactosemia
Galactose-1-P-Uridyltransferase deficiency
S = Galactosemia, galactosuria, cataracts, lethargy, jaundice, hypoglycemia
P = Hepatic interconversion of galactose to glucose
Essential Fructosemia
Fructokinase deficiency
S = Fructosuria, fructosemia
P = Hepatic Interconversion of Fructose to glucose
Hereditary Fructose Intolerance
Aldolase B deficiency
S = Fructosuria, fructosemia, hypoglycemia and vomiting.
P = Hepatic interconversion of fructose to glucose.
Hemolytic Anemia via Pyruvate Kinase Deficiency
S = Jaundice, high serum bilirubin, palpable spleen, low hematocrit, low hemoglobin, high reticulocytes and no Heinz Bodies
P = Glycolysis
Glucose-6-Phosphate Dehydrogenase Deficiency in RBC
S = Low hemoglobin, Jaundice, dark urine, weakness, Heinz Bodies
P = Hexose Monophosphate Shunt (Pentose Phosphate Pathway)
Carnitine Deficiency
S = Affects all tissues. Fatiguability and very poor exercise tolerance and hypoglycemia
P = Transport of fatty acids into mitochondria for B-oxidation
Carnitine Palmitoyltransferase I (CPT I) Deficiency
S = Affects mitochondria. Hypoglycemia, NO muscle fatigue
P = Transport of Fatty acids for B-oxidation.
Carnitine Palmitoyltransferase II (CPT II) Deficiency
S = Affects skeletal muscle. Muscle fatigue, with NO hypoglycemia
P = Transport of Fatty acids for B-oxidation.
Medium Chain AcylCoA Dehydrogenase Deficiency*****
S = increase in medium chain fatty acids in mitochondria, dicarboxylic aciduria
P = Impaired B-oxidation starts w-oxidation
Refsum’s Disease
impaired a-oxidation enzyme
S = accumulation of phytanic acid in tissues and plasma lipids, neurological problems, nerve deafness.
P =a-oxidation
Zellweger’s Syndrome
= absence of peroxisomes in all tissues, accumulation of C26-C38 fatty acids
P = B-oxidation in peroxisomes of VLCFA
Vitamin B12 deficiency
S = increased levels of methylmalonyl-CoA
P = B12 is a cofactor for methylmalonyl-CoA mutase and Homocysteine methyltransferase enzymes
Type II Hyperammonemia
Carbamoyl-Phosphate Synthetase I Deficiency
S = Increased in [ammonia], [glutamine], decrease in [BUN] with no change in [orotic acid]
P = Urea Cycle
Type I Hyperammonemia
Ornithine Transcarbamoylase (OTC) Deficiency
S = same as with type II Hyperammonemia but with an increase in uracil & orotic Acid
P = Urea Cycle
Hartnup Disease
S = pellagra-like, light rash.
P = Transport/Reabsorption of essential amino acids in Renal tubules
S = Formation of calculi in urinary tract. Increased levels of lysine, ornithine and arginine in the Urine.
P = Transport/Reabsorption of essential amino acids in Renal tubules
THF (folate) Deficiency***
S = neurological symptoms from increased levels of FIGLU
P = Histidine Catabolism
Maple Syrup Urine Disease – a-keto acid dehydrogenase deficiency
S = mental and neurological defects, vomiting, acidosis, dehydration, ketosis
P = Branched Chain Amino Acid Catabolism
Cystathione Synthase Deficiency
S = Excess of homocysteine in plasma/urine. B12 deficiency, dislocated lenses, deep vein thrombosis, stroke.
P = Homocysteine breakdown to methionine
– Cystathione Lyase Deficiency
S = Increased cystathione in urine, PLP required
P = Transformation of Cystathione to Propionyl CoA (Succinyl CoA formation pathway)
Phenylketonuria (PKU)
Phenylalanine Hydroxylase Deficiency
S = neurological symptoms, hyperactive tendon reflexes, elevated Phe levels with associated normal Tyr levels. Phenylpyruvate excreted in the urine.
P = Conversion of phenylalanine to tyrosine
Homogentisate Dioxygenase Deficiency
S = dark urine (homogentisate in urine), ochronosis (pigmentation of connective tissue), arthritis
Megaloblastic Anemia***
S = increased methylmalonic acid due to B12 deficiency
P = Thymidine Synthesis (DNA Synthesis)
Pernicious Megaloblastic Anemia
S = B12 deficiency due to a lack of intrinsic factor by parietal cells
P = DNA synthesis
Orotic Aciduria
– Orotate Phosphoribosyltransferase and/or Orotidine-5’-Decarboxylase Deficiency
S = increased orotic acid in urine.
P = Pyrimidine Biosynthesis
Adenosine Deaminase deficiency
S = immune deficiency
P = Purine Catabolism – Adenosine to Inosine
Lesch Nyan Syndrome
HGPRT deficiency
S = Gout, self-mutilating behavior
P = Purine Salvage Pathway
Selective T-Cell Immunodeficiency
Purine Nucleoside Phosphorylase Deficiency
S =
P = Purine Catabolism – Inosine to Hypoxanthine

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