Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
33 Cards in this Set
- Front
- Back
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 |
|
Cystinuria
|
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 |
|
Homocystinuria
|
Cystathione Synthase Deficiency
S = Excess of homocysteine in plasma/urine. B12 deficiency, dislocated lenses, deep vein thrombosis, stroke. P = Homocysteine breakdown to methionine |
|
Cystathionuria
|
– 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 |
|
Alkaptonuria
|
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 |
|
SCID
|
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 |