This quiz assesses knowledge on metabolic and hematodynamic disorders, focusing on enzyme deficiencies and their clinical implications. It covers disorders like Phenylketonuria, Von Gierke's Disease, and mitochondrial dysfunctions, essential for students in medical and biochemical education.
Folic acid deficiency
Iron-deficiency anemia
Thalassemia minor
Pernicious anemia
Sideroblastic anemia
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Galactosemia
Phenylketonuria
Wilson’s disease
Maple syrup urine disease
Niemann-Pick disease
Hemophilia A
Disseminated intravascular coagulation
Von Willebrand disease
Antiphospholipid syndrome
Thrombocytopenia
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Lymphedema
Chronic congestive lung disease
Deep venous thrombosis (DVT)
Acute coronary artery thrombosis
Emphysema
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Hemophilia A
Hemophilia B
Von Willebrand disease
Thrombocytopenia
Sickle cell disease
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High ketone levels in urine
Hepatosplenomegaly and mental retardation
Pain and jaundice
Induction of liver cytochrome P450 enzymes
Ceramide accumulation
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Ribose
Glycogen
Uric acid
Acetyl-CoA
Phosphoribosyl-pyrophosphate
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Alanine aminotransferase
Glutamate dehydrogenase
Lactate dehydrogenase
Pyruvate dehydrogenase
Pyruvate carboxylase
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Phosphatidylinositol
Ketone bodies
Methylmalonyl CoA
Plasmalogens
Acetyl CoA
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There will be no dextrans in the urine
AB -glucuronide at the non-reducing-end
A B-hexosamine at the non-reducing-end
AB -hexosamine sulfate at the non-reducing-end
A high concentration of urinary glucose
Chronic congestion of liver (‘Nut meg’)
Deep arterial mesenteric thrombosis
Pitting edema ++ (bilateral)
Disseminated intravascular coagulation (DIC)
Cardiac tamponade (pericardial bleeding)
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Metachromatic leucodystrophy
Tay-Sachs disease
Gaucher´s disease
Krabbe disease
Sandhoff´s disease
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Sustained hypoxia within the sinusoids of centrilobular structures
Markedly dilated sinusoids throughout the organ
Increased peripheral venous pressure with reduced outflow
Red blood cell accumulation in the sinusoidal spaces around the central vein
Lowered oxygen tension with resulting liver cell atrophy and necrosis
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Pyruvate Dehydrogenase
Pyruvate Carboxylase
Cytochrome P450
Cytochrome Oxidase
NADH Oxidoreductase
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Quiz Review Timeline (Updated): Mar 20, 2023 +
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