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BIOCHEMISTRY > Clinical Biochemistry > Flashcards

Clinical Biochemistry Flashcards

1
Q

Deficiency in 7-dehydrocholesterol reductase

A

Smith-Lemli-Opitz Syndrome

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2
Q

Deficiency in ApoE

A

Familial Dysbetalipoproteinemia

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3
Q

Most common inborn error of fatty acid oxidation

A

MCAD Deficiency (Medium-Chain Fatty Acyl CoA dehydrogenase) –> SIDS

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4
Q

Mitochondrial defect. Clinical SSx includes encaphalomyopathy with short stature, stroke-like episodes, migrainous headaches, vomiting, seizures and lactic acidoses

A

MELAS - Mitochondrial encapholomyopathy, Lactic Acidosis and Stroke-like episodes

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5
Q

Deficiency in Lipoprotein Lipase

A

Familial Hyperchylomicronemia/Buerger-Gruetz Syndrome

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6
Q

Disease using BETA-GLUCOCEREBROSIDASE as diagnostic enzyme

A

Gaucher Disease

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7
Q

Deficiency in 17-alpha-Hydroxylase

A

CAH (Dec in Cortisol/Androgen, Inc in Aldosterone)

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8
Q

Point mutation in Mitochondrial DNA (NADH dehydrogenase) resulting to loss of retinal ganglion cell which leads to late onset acute neuropathy and bilateral central vision loss

A

Leber Hereditary Optic Neuropathy

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9
Q

Hyperlipoproteinemia Type Ib

A

Familial apoprotein CII deficiency

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10
Q

Glycogen Storage Disease Type IV

A

Andersen Disease (type)

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11
Q

Deficiency in Lactase

A

Lactose Intolerance

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12
Q

Hyperlipoproteinemia Type III

A

Familial Dysbetalipoproteinemia (type)

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13
Q

Absence of peroxisomes in all tissues leading to marked accumulation of very-long chain, saturated, unbranched fatty acids in the liver and CNS

A

Zellweger Syndrome

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14
Q

Deficiency in LDL Receptor

A

Familial Hypercholesterolemia

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15
Q

(Organ) Deficiency in Carnitine-Palmitoyl Transferase II

A

Cardiac and Skeletal Muscle (Cardiomyopathy)

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16
Q

Deficiency in Aldolase A

A

Hemolytic Anemia

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17
Q

Glycogen Storage Disease Type I

A

Von Gierke Disease (type)

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18
Q

Inability to transport VLCFAs accross the peroxisomal membrane leading to accumulation in the brain, adrenals and testes

A

> Adrenoleukodystrophy

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19
Q

Deficiency in LDL Receptor and Overpoduction of ApoB

A

Combined Hyperlipidemia

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20
Q

Disease using GAMMA GLUTAMYL TRANSFERASE as diagnostic enzyme

A

Liver Diseases

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21
Q

Deficiency in Fructokinase

A

Essential Fructosuria

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22
Q

Deficiency in Muscle glycogen phosphorylase

A

McArdle (V) [ M for M]

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23
Q

Deficiency in Galactokinase

A

Galactokinase Deficiency

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24
Q

Disease using AMYLASE as diagnostic enzyme

A

Acute Pancreatitis

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25
Q

Deficiency of phytanol-CoA hydroxylase

A

Refsum Disease

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26
Q

VLDL overproduction and decreased elimination

A

Familial Hypertriacylglycerolemia

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27
Q

Deficiency in Essential Fatty Acids

A

Ichthyosis, Hair Loss, Pour wound healing

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28
Q

Glycogen Storage Disease Type VI

A

Hers Disease (type)

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29
Q

Glycogen Storage Disease Type II

A

Pompei Disease (type)

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30
Q

Results from inhalation anesthetics triggering a reaction in susceptible people, with marked rise in temperature and respiratory acidosis

A

Malignant Hyperthermia

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31
Q

Hyperlipoproteinemia Type IV

A

Familial Hypertriacylglycerolemia (type)

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32
Q

Deficiency in Pyruvate Kinase

A

Hemolytic Anemia

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33
Q

Hyperlipoproteinemia Type IIb

A

Familial Combined Hyperlipidemia (type)

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34
Q

VLDL overproduction with deceased lipoprotein lipase

A

Mixed Hyperlipidemia

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35
Q

Disease using ALT as diagnostic enzyme

A

Viral Hepatitis

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36
Q

Cerebrohepatonrenal Syndrome

A

<p>Zellweger Syndrome</p>

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37
Q

Hyperlipoproteinemia Type V

A

Mixed Hyperlipidemia (type)

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38
Q

Deficiency in Apo B-48 and Apo B-100

A

Abetalipo-proteinemia

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39
Q

Deficiency in glycogen branching enzyme

A

Andersen Disease (IV) [A–>B]

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40
Q

Deficiency in Lysosomal Acid Maltase

A

Pompei Disease (II) [pOMpei for LysosOMal]

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41
Q

Hyperlipoproteinemia Type Ia

A

Familial Hyperchylomicronemia/Buerger-Gruetz Syndrome (type)

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42
Q

Deficiency in Pyruvate Dehydrogenase

A

Congenital Lactic Acidosis

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43
Q

Neonates rely on thermogenin to produce heat and prevent hypothermia

A

Nonshivering thermogenesis

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44
Q

Deficiency in Galactose-1-Phosphate-uridyl transferase deficienct

A

Classic Galactosemia

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45
Q

Disease using LIPASE as diagnostic enzyme

A

Acute Pancreatitis

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46
Q

Deficiency in G6PD

A

Hemolytic Anemia and Jaundice

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47
Q

Hyperlipoproteinemia Type IIa

A

Familial Hypercholesterolemia (type)

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48
Q

Glycogen Storage Disease Type V

A

MacArdle Disease (type)

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49
Q

Glycogen Storage Disease Type IIIa

A

Cori Disease (type)

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50
Q

Deficiency in 21-alpha Hydroxylase

A

CAH (Dec in Aldosterone/Cortisol, Inc in Androgens)

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51
Q

Disease using CERULOPLASMIN as diagnostic enzymee

A

Wilson Disease

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52
Q

Deficiency in 11-B1-Hydroxylase

A

CAH (Inc production of Deoxycorticosterone)

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53
Q

Deficiency in Aldolase B

A

Hereditary Fructose Intolerance

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54
Q

Intolerance of ingested sucrose

A

Sucrase-Isomaltase Complex deficiency

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55
Q

Deficiency in Xylulose reductase

A

Essential Pentosuria

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56
Q

Disease using AST as diagnostic enzyme

A

Myocardial Infarction

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57
Q

(Organ) Deficiency in Carnitine-Palmitoyl Transferase I

A

Liver (Hypogylcemia, Coma, Death)

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58
Q

Deficiency in glycogen debranching enzyme

A

Cori Disease (IIIa) [C–>D]

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59
Q

Deficiency in Glucose-6-Phosphatase

A

Von Gierke Disease (I) [Gierke for Glucose]

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60
Q

Disease using CREATININE KINASE as diagnostic enzyme

A

Myocardial Infarction

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61
Q

Deficiency in NADPH oxidase

A

Chronic Granulomatous Disease

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62
Q

Deficiency in Apo C-II

A

Familial apoprotein CII deficiency

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63
Q

Mutations is spectrin, ankyrin, band 4.1 and 4.3

A

Hereditary spherocytosis

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64
Q

Point mutations in genes encoding for the B-chain that results in VALINE rather than glutamate

A

Sicke Cell Disease

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65
Q

Hemoglobin variant that has a single amino acid substitution in the 6th position of the globin chain in which lysine is substituted for glutamate

A

Hemoglobin C Disease

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66
Q

Defect in Type I and V collagen with more severe skin abnormalities and less sever joint changes

A

Classical Ehlers-Danlos Syndrome

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67
Q

Defect in Type III collagen with joint hypermobility, skin abnormalities, osteoarthritis and sever pain

A

Hypermobility Ehlers-Danlos Syndrome

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68
Q

Defect in Type III collagen with fragile blood vessels and organs, small stature, thin and translucent skin, easy bruising and increased risk for aneurysms

A

Vascular Ehlers-Danlos Syndrome

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69
Q

Defect in Type I Collagen, Brittle bone syndrome

A

Osteogenesis Imperfecta

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70
Q

Defect in Type IV Collagen with hematuria, ocular lesions, hearing loss and may progress to ESRD

A

Alport Syndrome

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71
Q

Defect in Type VII collagen which anchors the basal lamina to collagen fibrils in the dermis –> skin breaks and blisters from minor trauma

A

Epidermolysis bullosa

72
Q

Dietary deficiency of copper required by lysyl oxidase characterized by kinky hair and growth retardation

A

Menkes Disease

73
Q

Mutation in the fibrillin gene

A

Marfan Syndrome

74
Q

Alpha-1 antitrypsin deficiency

A

Emphysema (COPD)

75
Q

Most common enzyme deficiency in Hereditary Hyperammonemia

A

Ornithine transcarbomylase

76
Q

2nd most common enzyme deficiency in Hereditary Hyperammonemia

A

Carbamoyl phosphate synthetase I

77
Q

Deficiency in phenylalanine hydroxylase or tetrahydrobiopterin

A

Phenylketonuria

78
Q

Congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine, leading to build up of homogentisic acid

A

Alkaptonuria

79
Q

Defective melanin synthesis due to the absence of tyrosinase and defective tyrosine receptors

A

Albinism

80
Q

Defect in fumarylacetoacetate hydrolase

A

Tryosinemia Type I

81
Q

Deficiency in tyrosine aminotransferase

A

Tyrosinemia Type II

82
Q

Defect in cystathionine-B-synthase

A

Homocystinuria

83
Q

Defect in methionine degradation leading to high plasma and urinary homocysteine and methionine

A

Homocystinuria

84
Q

Defect in renal tubular AA transporter for Cysteine, Ornithine, Lysine and Arginine in the PCT of the Kidneys

A

Cystinuria

85
Q

Deficiency in Methymalonyl CoA mutase

A

Methylmalonic Acidemia

86
Q

Defect in coversion of methylmalonyl CoA to succinyl CoA

A

Methylmalonic Acidemia

87
Q

Deficiency in A-Ketoacid dehydrogenase complex blocking degradation of branched chained amino Acids

A

Maple Syrup Urine Disease

88
Q

Defect in Histidase which converts Histidine to urocanate

A

Histidinemia

89
Q

Enzymes in Heme Metabolism affected by Lead poisoning

A

ALA Dehydratase and Ferrocheletase

90
Q

Deficiency in Uroporphyrinogen decarboxylase

A

Porphyria Cutanea Tarda

91
Q

Most common porphyria

A

Porphyria Cutanea Tarda

92
Q

Deficiency in Hydroxymethylbilane Synthase/Porphobilinogen Deaminase

A

Acute Intermittent Porphyria

93
Q

Deficiency in Urophorphyrinogen III Cosynthase

A

Congenital Erythropoietic Porphyria

94
Q

Deficiency in Hexosaminidase A

A

Tay-Sachs Disease

95
Q

Deficiency in Sphingomyelinase

A

Niemann-Pick Disease

96
Q

Deficiency in Beta glucosidase

A

Gaucher Disease

97
Q

Deficiency in Alpha-galactosidase

A

Fabry Disease

98
Q

Deficiency in Arylsulfatase A

A

Metachromatic Leukodystrophy

99
Q

Deficiency in Beta galactosidase (lysosomal)

A

Krabbe Disease

100
Q

Deficiency in ceramidase

A

Farber Disease

101
Q

Disease associated with accumulation of GM2 ganglioside

A

Tay-Sachs Disease

102
Q

Disease associated with accumulation of sphingomyelin

A

Niemann-Pick Disease

103
Q

Disease associated with accumulation of glucosylceramide

A

Gaucher Disease

104
Q

Disease associated with accumulation of globotriaosylceramide

A

Fabry Disease

105
Q

Disease associated with accumulation of 3-sulfogalactosylceramide

A

Metachromatic leukodystrophy

106
Q

Disease associated with accumulation of Galactosylceramide

A

Krabbe Disease

107
Q

Disease associated with accumulation of ceramide

A

Farber Disease

108
Q

LSD with (+) Mental Retardation, (+) Cherry red spot on macula, (-) Hepatosplenomegaly.

A

Tay-Sachs Disease

109
Q

Patho : LYSOSOMES WITH ONION SKIN. Epid: Ashkenazi Jews

A

Tay-Sachs Disease

110
Q

LSD with (+) Mental Retardation, (+) Cherry red spot on macula, (+) Hepatosplenomegaly.

A

Niemann-Pick Disease

111
Q

Patho : FOAM CELLS

A

Niemann-Pick Disease

112
Q

Most common lysosomal storage disease

A

Gaucher Disease

113
Q

LSD with (+) Mental Retardation, (+) Erosion of long bones, (+) Hepatosplenomegaly.

A

Gaucher Disease

114
Q

Patho : Macrophages that resemble CRUMPLED TISSUE PAPER

A

Gaucher Disease

115
Q

LSD with progressive paralysis, cognitive decline, demylination with Patho: sulfatides forming granules that are metachromatic

A

Metachromatic leukodystrophy

116
Q

LSD with lipids accumulating in the joints with tissue granulomas, subcutaneous nodules and hoarse cry

A

Farber Disease

117
Q

Glycoprotein in Influenza virus

A

Neuraminidase

118
Q

Demyelinating disease with loss of both phospholipids and sphingolipids from white matter resulting in decrease CSF phospholipids

A

Multiple Sclerosis

119
Q

Protein Deprivation: Kwasharkoir vs Marasmus

A

Kwasharkoir

120
Q

Calorie Deprivation: Kwasharkoir vs Marasmus

A

Marasmus

121
Q

Edema: Kwasharkoir vs Marasmus

A

Kwasharkoir

122
Q

Fatty Liver: Kwasharkoir vs Marasmus

A

Kwasharkoir

123
Q

Muscle Wasting: Kwasharkoir vs Marasmus

A

Marasmus

124
Q

Stunted growth: Kwasharkoir vs Marasmus

A

Marasmus

125
Q

Vitamin deficiency in Nyctalopia

A

A - Retinol/Retinal/Retinoic Acid

126
Q

Vitamin deficiency in Xerophtalmia

A

A - Retinol/Retinal/Retinoic Acid

127
Q

Vitamin deficiency causing skin keratinization

A

A - Retinol/Retinal/Retinoic Acid

128
Q

Vitamin deficiency in Rickets and Osteomalacia

A

D - Cholecalciferol (3), Ergocalciferol (2)

129
Q

Vitamin deficiency in Hemolytic anemia

A

E - Tocopherol/Tocotrienol

130
Q

Vitamin deficiency in Hemorrhagic Disease of the Newborn

A

K - Phytomenandione

131
Q

Vitamin deficiency in Beriberi

A

B1 - Thiamine

132
Q

Vitamin deficiency in Wenicke Encephalopathy

A

B1 - Thiamine

133
Q

Vitamin deficiency causing keratomalacia

A

A - Retinol

134
Q

Confusion, Opthalmoplegia, Ataxia

A

Wernicke-Korsakoff Syndrome

135
Q

Vitamin deficiency causing cheilosis, corneal vascularization

A

B2 - Riboflaving (2Cs of VIt B2)

136
Q

Vitamin deficiency in Pellagra

A

B3 - Niacin/ Nicotinic Acid

137
Q

Vitamin deficiency causing Cheilosis, Angular Stomatitis, Desquamation and inflammatio of the tongue, Seb Derm

A

B3 - Niacin/ Nicotinic Acid [CADIS]

138
Q

Vitamin deficiency in Nutritional Melalgia/Burning Foot syndrome

A

B5 - Pantothenic Acid

139
Q

Vitamin deficiency in Isoniazid Toxicity causing neuropathy

A

B6 - Pyridoxine

140
Q

Vitamin deficiency causing Sideroblastic Anemia

A

B6 - Pyridoxine

141
Q

Vitamin deficiency associated with excessive ingestion of raw white eggs

A

B7 - Biotin

142
Q

Vitamin deficiency causing Macrocytic, Megaloblastic Aenmia

A

B9 - Folate and B12 - Cyanocobalamin

143
Q

Inc Homocysteine, Normal MMA: B9 vs B12

A

B9 - Folate

144
Q

Vitamin deficiency causing Pernicious Anemia

A

B12 - Cyanocobalamin

145
Q

Vitamin deficiency causing scurvy

A

C - Ascorbic Acid

146
Q

Iron overload syndrome with progressive hemosiderosis and resulting organ damage

A

Hemochromatosis

147
Q

Dermatitis, diarrhea and alopecia due to impaired intestinal zinc Absorption

A

Acrodermatitis enterohepatica

148
Q

Mineral deficiency in patients receiving total parenteral nutrition

A

Copper

149
Q

Deficiency : Kayser-Fleisher Rings

A

Copper

150
Q

Disease : Kayser-Fleisher Rings

A

Wilson Disease

151
Q

Hepatocellular degeneration due to blocked hepatobiliary excretion of Copper

A

Wilson Disease

152
Q

Low Selenium Content causing cardiomyopathy. Endemic in China

A

Keshan Disease

153
Q

Deficiency in Alpha-L-Iduronidase

A

Hurler Syndrome

154
Q

Deficiency in Iduronate Sulfatase

A

Hunter Syndrome

155
Q

Deficiency in B-glucoronidase

A

Sly Syndrome

156
Q

Deficiency in Galactose-6-sulfatase (A) and Beta-galactosidas(B)

A

Morquio Syndrome

157
Q

All Mucopolysaccharidoses are autosomal recessive except?

A

Hunter syndrome (X-linked)

158
Q

All Mucopolysaccharidoses have mental retardation except?

A

Morquio Syndrome

159
Q

Corneal Clouding: Hunter Vs Hurler

A

Hurler! (Hunter needs sharp vision so dapat wala)

160
Q

Enzyme deficient in Lesch-Nyhan Syndrome

A

HGPRT

161
Q

HGPRT Deficiency

A

Lesch-Nyhan Syndrome

162
Q

Hyperuricemia, Gout, Pissed off, Retardation, dysTonia

A

Lesch-Nyhan Syndrome (HGPRT mnemonic)

163
Q

Adenosine Deaminase Deficiency

A

Severe Combined Immunodeficiency

164
Q

Ornithine Transcarbamylase (OTC) Deficiency

A

Orotic Aciduria with Hyperammonemia

165
Q

UMP Synthase Deficiency

A

Orotic Aciduria with Megaloblastic Anemia

166
Q

Dihydropyrimidine dehydrogenase deficiency

A

B-hydroxy-butyric Aciduria

167
Q

Disease associated with Mismatched Strand in DNA

A

Lynch Syndrome

168
Q

Disease associated with Pyrimidine Dimer (thymine dimer)

A

Xeroderma Pigmentosum

169
Q

Disease associated with DNA base alterations (cytosine to uracil, guanine to xanthine)

A

MUTHY-associated polyposis

170
Q

Disease associated with DNA double strand breaks

A

SCID, Breast Cancer

171
Q

Trinucleotide Repeat: CAG

A

Huntington Disease (Caudate has dec Ach and Gaba)

172
Q

Trinucleotide Repeat: CTG

A

Myotonic Dystrophy (Cataracts, Toupee [early balding in men], Gonadal Atrophy)

173
Q

Trinucleotide Repeat: CGG

A

Fragile X syndrome (Chin protruding, Giant Gonads)

174
Q

Trinucleotide Repeat: GAA

A

Friedrich Ataxia (Ataxic GAAit)

175
Q

Enzyme in glycolysis halted by Arsenic Poisining

A

Glyceraldehyde 3-Phosphate Dehydrogenase

176
Q

Enzyme deficient in humans making us impossible to synthesize Ascorbic Acid

A

L-gulonolactone oxidase

BIOCHEMISTRY (1 decks)

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