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44 Cards in this Set
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Glycogen Storage Disease- features Severe hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia, short stature
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Type I: von Gierke Disease
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Glycogen Storage Disease- features cardiogmegaly, muscle weakness, death by 2 years
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Type II: Pompe disease
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Glycogen Storage Disease- features mild hypoglycemia; liver enlargement
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Type III: Cori disease
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Glycogen Storage Disease- infantile hypotonia, cirrhosis, death by 2 years
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Type IV: Andersen disease
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Glycogen Storage Disease- muscle cramps/weakness during initial phase of exercise, possible rhabdomyolysis and myoglobinuria
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Type V: McArdle disease
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Glycogen Storage Disease- Mild fasting hypoglycemia, hepatomegaly, cirrhoisis
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Type VI: Hers disease
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Pyruvate Disease- lactic acidosis, seizures, mental retardation, ataxia, spasticity
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Pyruvate Dehydogenase Deficiency
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Hexose Monophosphate Shunt- Episodic hemolytic anemia induced by infection and drugs (Common) or chronic hemolysis (rare); x-linked recessive; female hetrozygotes have increase resistance to malaria
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glucose-6-phosphatase Dehydrogenase deficiency
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rate limiting step in critic acid cycle
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Isocitrate dehydrogenase
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Glycolysis disease- galactosemia/galactosuria, cataracts in childhood,
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Galactokinase deficiency
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Glycolysis disease- more severe than galactokinase deficiency with vomiting/diarrhea after milk ingestion, liver disease, lethargy, mental retardation
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Gal-1-P uridyl transferase deficiency
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Glycolysis disease- fructosuria; benign
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Fructokinase deficiency
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Glycolysis disease- fructosuria, liver and proximal renal tubule disorder;
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Aldolase B deficiency
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Glycolysis disease- chronic hemolysis, increased 2,3-BPG and other glycolytic intermediates in the RBC, no Heinz bodies, autosomal recessive
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Pyruvate kinase deficiency
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Glycolysis rate limiting step
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PFK-1
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Glucose transport- basal uptake (most cells)
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GLUT-1 and GLUT-3
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Glucose transport- storage (liver) and glucose sensor (beta-Islet)
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GLUT-2
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Glucose transport- increased by insulin (fat and muscle) increased by exercise (skeletal muscle)
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GLUT-4
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Amino Acid diseases- Tyrosine hydroxylase or tyrosine transporter deficiency. decreased pigmentatin of skin, eyes, and hair
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Albinism
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Amino Acid diseases- Increase serotonin excretion from gastrointestinal neuroendocrine tumors, cutaneous flushing, venous telangiectasia, diarrhea, bronchospasm, cardiac valvular lesions
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Carcinoid Syndrome
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Amino Acid Diseases- Uroporphyrinogen-I synthase deficiency, episodic expression, acute abdominal pain, anxiety, confusion, paranoia, muscule weakness, port-wine urine in some patients.
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Acute Intermittent Porphyria
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Amino Acid Diseases- Uroporphyrinogen decarboxylase deficiency, photosensitivity, skin inflammations, and blistering, cirrhosis often associated.
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Porphyria Cutanea Tards
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Amino Acid Diseases- inhibits ALA dehydratase and ferrochelatase; microcytic sideroblastic anemia; basophilic stippling of RBC, memory loss, neuropathy (claw hand, wrist-drop), increased urine excretion. Tx: dimercaprol and EDTA.
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Lead Poisoning
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Jaundice due to increased bilirubin from severe hemolysis; decreased hemoglobin; increased reticulocytes; may result from
1. G6PD deficiency hemolysis, 2. Sickle cell crisis, 3. Rh disease of newborn |
Hemolytic Crisis
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Jaundice due to low bilirubin conjugation; may result from:
1. Crigler-Najjar syndromes 2. Gilbert Syndrome 3. Physiologic jaundice of newborn |
UDP-Glucuronyl Transferase Deficiency
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Amino Acid disease- transport protein defect with increased excretion of neutral amino acids; symptoms similar to pellagra
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Hartnup Disease
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Amino Acid disease- buildup of Phenylalanine; musty body odor, mental retardatin, microcephaly, Tx: avoid aspartame
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Phenylketonuria
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Amino Acid disease- increased homogentisic acid in blood and urine (darkens when exposed to air), ochronosis (dark pigment in cartilage), arthritis in adulthood.
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Alkaptonuria
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Amino Acid Disease- increased homocystine in urine. dislocated lens, DVT, stroke, atherosclerosis
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Homocystinuria
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Amino Acid Disease- transport protein defect with increase excretion of lysine, arginine, cystine, and ornithine. causes kidney stones: Tx-acetazolamide
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Cystinuria
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Amino Acid Disease- Branched-chain ketoacid dehydrogenase deficiency. maple syrup color of urine, ketosis/coma/death.
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Maple Syrup urine disease
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Amino Acid Disease- Neonatal ketoacidosis from blocked degradation of valine, isoleucine, methionine,threonine, and odd-carbon fatty acids
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Propionyl-CoA carboxylase deficiency and Methylmalonyl- CoA mutase deficiency
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rate-limiting step for fatty acid synthesis (requires biotin)
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Acetyl-CoA Carboxylase
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rate-limiting steps for fatty acid oxidation
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Carnitine acyltransferase-1 (CAT-1)
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Ketone body metabolism- Excess Ketone bodies in blood.
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Diabetic Ketoacidosis
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Ketone body metabolism- Excess ketone bodies due to high NADH/NAD ratio in liver
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Alcoholic Ketoacidosis
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rate-limiting step in cholesterol synthesis
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HMG-CoA reductase
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Lysosomal storage disease- decreased Hexosaminidase A, increase GM2, (whorled membranes in lysosomes), cherry red spots in macula, psychomotor retardatin. Death under 2 years of age
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Tay-Sachs Disease
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Lysosomal storage Diseases- decreased Sphingomylelinase, (Zebra bodies in lysosomes), Hepatosplenomegaly, microcephaly, mental retardation, foamy macrophages
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Niemann-Pick disease
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Lysosomal storage disease- decreased b-glucocerebrosidase, increased glucocerebroside. Gaucher cells -(enlarged macrophages with fibrillary cytoplasm)
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Gaucher disease
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Lysosomal storage disease- decreased a-galactosidase A, renal failure, Telangiectasias, Angiokeratomas, pain in extremities
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Fabry disease
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Lysosomal storage disease- decreased arylsulfatase A; ataxia, dementia, seizures.
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Metachromatic leukodystrophy
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lysosomal storage disease- decreased a-l-iduronidase. coarse facial features, corneal clouding, hepatosplenomegaly, skeletal deformities, Upper airway obstruction. recurrent ear infections. Death before age 10.
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Hurler Syndrome
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Lysosomal Storage disease- decreased l-iduronate-2-sulfatase. Both mild and severe forms. retinal degeneration, aggressive behavior, and death before age 15. Mild form compatible with long life
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Hunter Syndrome
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