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first aid stuff i don't know > Vol. I - Biochem > Flashcards

Vol. I - Biochem Flashcards

1
Q

name the pyrimidines

A

Cytosine, uracil, thymine

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2
Q

Vitamin E deficiency

A

hemolytic anemia, acanthocytosis, weakness, posterior column demyelination (like B12)

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3
Q

B12 deficiency labs

A

high homocysteine AND high MMA levels

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4
Q

p53 –> Rb hypophosphorylation (activation) blocks

A

G1 to S transition

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5
Q

Deficiency in homologous recombination is found in:

A

BRCA1 mutation and Fanconi anemia

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6
Q

PKA is activated by

A

glucagon –> cAMP (in a fasting state)

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7
Q

Vitamin A (retinoic acid et al) deficiency

A

Night blindness, dryness, corneal degeneration, immunosupression

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8
Q

Lysosomal acid alpha 1,4 glucosidase (aka acid maltase) deficiency

A

Pompe disease

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9
Q

Homocystinuria presentation

A

HOMOCYstiene: high Homocysteine, Osteoporosis, Marfanoid habitus, Occular changes (down and in), Cardiovascular effects, kYphosis

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10
Q

Angelman syndrome mechanism

A

Paternal genes are silenced, disease occurs when maternal allele is lost

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11
Q

Rate limiting enzyme of de novo pyrimidine synthesis

A

Carbamoyl phosphate synthetase II

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12
Q

Function of 1,25 D3

A

increased intestinal absorption of Ca and PO4
increased bone mineralization (low levels)
increased bone resorption (high levels)

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13
Q

Most common lysosomal storage disease

A

Gaucher disease

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14
Q

Metachromatic leukodystrophy presentation

A

Central and peripheral demyelination –> ataxia and dementia

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15
Q

glycine is a precursor for

A

porphyrin –> heme

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16
Q

Rate limiting enzyme of fatty acid synthesis

A

Acetyl-CoA carboxylase

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17
Q

vitamin K dependent clotting factors

A

II, VII, IX, X, protein C and S

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18
Q

Is euchromatin expressed?

A

Yes - E is for expressed

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19
Q

citrate shuttle is required for

A

Fatty acid synthesis

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20
Q

VLDL apolipoproteins

A

Apo-E, C II, and B 100

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21
Q

Cause of Lesch-Nyhan syndrome

A

lack of HGPRT

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22
Q

Rate limiting enzyme of cholesterol synthesis

A

HMG-CoA reductase

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23
Q

Pyruvate dehydrogenase complex deficiency

A

x linked
pyruvate is shunted to lactate, high serum alanine
treat with ketogenic diet

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24
Q

Pathophysiology of Glucose-6-phosphate dehydrogenase deficiency

A

Reduced NADPH production –> not enough NADPH to reduce glutathione in RBCs –> vulnerable to oxidative damage (fava beans, sulfa drugs, nitrogen drugs) –> hemolytic anemia

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25
Q

Vitamin D deficiency

A

rickets in children, osteomalacia in adults

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26
Q

Purely glucogenic amino acids

A

Methionine, histidine, valine

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27
Q

Classic galactosemia is caused by

A

deficiency of galactose-1-phosphate uridyltransferase

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28
Q

Presentation of Lesch Nyhan syndrome

A

HGPRT: Hyperuricemia, Gout, Pissed off, Red/orange crystals in urine, Tense muscles

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29
Q

Fasting hypoglycemia, increased glycogen in liver, increased lactate, triglyceride, uric acid, hepatomegally

A

Von Gierke disease

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30
Q

Drugs that block pyrimidine synthesis:

A

Leflunomide and 5-FU/Capecitabine

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31
Q

Refsum disease defect

A

AR disorder of alpha-oxidation –> buildup of phytanic acid

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32
Q

Apo-C II function

A

lipoprotein lipase cofactor

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33
Q

hexokinase is found in

A

most tissues, not liver or beta cells

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34
Q

adrenoleukodistrophy defect

A

beta-oxidation (mutation in ABCD1)

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35
Q

Drugs the block all nucleotide synthesis:

A

Hydroxyurea, methotrexate, trimethoprim, pyrimethamine

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36
Q

Actinomycin D mechanism of action

A

inhibits RNA pol

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37
Q

Cause of beriberi

A

B1 deficiency

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38
Q

Pathogenesis of I-cell disease

A

defective enzyme in golgi –> can’t phosphorylate mannose –> low mannose-6-P –> enzymes are secreted instead of trafficked to lysosome –> build up of debris in lysosomes

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39
Q

Rate limiting enzyme of TCA cycle

A

isocitrate dehydrogenase

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40
Q

Vitamin B9

A

folate

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41
Q

RNA pol III makes

A

tRNA

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42
Q

Antimycin A target

A

ETC complex III

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43
Q

Digoxin mechanism

A

blocking Na-K-ATPase –> decreased Na/Ca exchange –> increased intracellular Ca –> increased contractility

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44
Q

Lack of tyrosinase causes

A

albinism

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45
Q

Gowers sign

A

Use of upper extremities to help stand up (common in muscular dystrophies)

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46
Q

Rate limiting enzyme of urea cycle

A

Carbamoyl phosphate synthetase I

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47
Q

Rett syndrome

A

MECP2 mutations, only seen in females, “regression”

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48
Q

Menkes disease pathophysiology

A

Impaired copper absorption due to defective ATP7A –> defective collagen cross-linking –> brittle hair, dev delay, increased risk of aneurysms

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49
Q

Mutation in Li-Fraumeni syndrome

A

p53

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50
Q

Rate limiting enzyme of glycolysis

A

PFK-1

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51
Q

Krabbe disease presentation

A

peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells

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52
Q

Collagen hydroxylation requires

A

Vitamin C

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53
Q

Urea cycle

A

Ordinarily Careless Crappers Are Also Frivolous About Urination

Ornithine + Carbamoyl Phosphate –> Citruline + Aspartate –> Arginosuccinate –> Funarate and Arginine –> Urea and Ornithine

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54
Q

Tryptophan is a precursor for

A

serotonin and niacin

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55
Q

RNA pol II makes

A

mRNA

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56
Q

Symptoms of Pellagra

A

3Ds: diarrhea, dementia, and dermatitis

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57
Q

Tay-Sachs presentation

A

Cherry red spot on macula, NO hepatosplenomegally, progressive neurodegeneration

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58
Q

Becker’s muscular dystrophy

A

less severe than Duchenne, cause by a non-frameshift deletion –> partially functional

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59
Q

skeletal muscle glycogen phosphorylase deficiency

A

McArdle disease

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60
Q

Cori Cycle

A

Glucose from liver to muscle

Lactate from muscle to liver

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61
Q

Tay-Sachs disease

A

Hexoamidase A loss –> GM2 ganglioside accumulation

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62
Q

Zellweger syndrome presentation

A

hypotonia, seizures, hepatomegaly, early death

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63
Q

Rate limiting enzyme of ketogensis

A

HMG-CoA synthase

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64
Q

Signal recognition particle

A

traffics proteins to rough ER

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65
Q

LDL apolipoproteins

A

Apo-B 100

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66
Q

Presentation of I-cell disease

A

coarse facial features, gingival hyperplasia, corneal clouding, restricted hand movements, claw hand, kyphoscoliosis

often fatal in childhood

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67
Q

Vitamin B7

A

biotine

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68
Q

Duchenne Muscular Dystrophy presentation

A

progressive weakness beginning in pelvic girdle, calf pseudohypertrophy, waddling gait

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69
Q

Drugs that target ETC complex IV

A

Azide, cyanide, CO

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70
Q

Debranching enzyme deficency

A

Cori disease

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71
Q

Is heterochromatin expressed?

A

No - HC is for highly condensed

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72
Q

Test for lactase deficiency

A

low pH in stool and H+ on breath

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73
Q

Edward syndrome cause

A

trisomy 18

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74
Q

Effects of PTH

A

increased 1,25 D3 production
increased Ca reabsorption in kidney
decreased PO4 reabsorption in kidney

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75
Q

Vitamin B5

A

Pantothenic acid –> CoA

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76
Q

Folate deficiency labs

A

high homocysteine, normal MMA levels

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77
Q

Defined Lyonization

A

Spontaneous X inactivation by methylation

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78
Q

Cri-du chat syndrome cause

A

chromosome 5 short arm deletion

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79
Q

PKU findings

A

intellectual disability, microcephaly, seizures, hypopigmented skin, eczema, musty body odor

80
Q

Down syndrome findings

A

Intellectual disability, flat facies, single palmar crease, duodenal atresia, Hirschsprung disease, congenital heart disease, early onset alzheimers

81
Q

Glycogen storage diseases in order I-V:

A

Vice Presidents Can’t Accept Money: Von Gierke, Pompe, Cori, Andersen, McArdle

82
Q

Cystinuria pathophysiology

A

PCT and intestinal deffect preventing reabsorption of COLA: cystine, ornithine, lysine, and arginine

83
Q

phenylalanine and tyrosine are precursors for

A

catecholamines

84
Q

Niemann-Pick disease presentation

A

progressive neurodegeneration, hepatosplenomegally, cherry red spot on macular, foam cells

85
Q

Rate limiting enzyme of de novo purine synthesis

A

glutamine-PRPP amidotransferase

86
Q

Refsum disease treatment

A

diet

87
Q

sorbitol can accumulate in

A

Lens, Retina, Kidney, Schwann cells ( all lack sorbitol dehydrogenase)

88
Q

deficient enzyme in Bloom Syndrome

A

DNA helicase (BLM gene)

89
Q

F-1,6-BP regulation

A

activates PFK 1
produced in fed state by PFK 2
converted back to F6P by FBPase2 in fasting state

90
Q

fragile X presentation (>200 repeats)

A

macroorchidism, long face, large jaw and ears, autism, mitral valve prolapse, hypermobile joints

91
Q

Fragile X-syndrome cause

A

trinucleotide CGC repeat expansion in FMR1 –> decreased expression

92
Q

tRNA structure

A

ACC attachment site at 3’
T arm Tethers to ribosome
Anticodon loop
D arm binds synthetase for charging

93
Q

Niemann-Pick disease

A

sphingomyelinase loss

94
Q

Relationship b/w Vitamin C and Fe

A

C reduces iron to 2+ state –> aids absorption and is ancillary treatment for methemoglobinemia

95
Q

Prader-Willi presentation

A

Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

96
Q

Apo-A I function

A

activates LCAT, is found only on HDL

97
Q

Friedreich ataxia cause

A

AR trinucleotide expansion of GAA

98
Q

Hunters see clearly and aim for the X

A

Hunters syndrome has no corneal clouding and is X linked

99
Q

RNA pol I makes

A

rRNA

100
Q

Excess vitamin A (chronic)

A

alopecia, dry skin, liver toxicity, increased ICP

101
Q

alpha1-antitrypsin deficiency pathophysiology

A

decreased alpha1-AT –> unopposed elastase activity –> breakdown of elastic structures –> COPD

102
Q

Pyruvate dehydrogenase complex is activated by

A

High NAD/NADH, high ADP, high Ca

103
Q

Vitamin B6

A

pyridoxine

104
Q

Purely ketogenic amino acids

A

Leucine, lysine

105
Q

Prader-Willi syndrome mechanism

A

Maternal genes are silenced, disease when paternal copy is lost

106
Q

Cahill Cycle

A

Alanine from muscle to liver

Glucose from liver to muscle

107
Q

Glucose-6-phosphate deficiency

A

Von Gierke disease

108
Q

Defective in Alport syndrome

A

Collagen type IV –> BM

109
Q

Branching enzyme deficiency

A

Andersen disease

110
Q

B12 deficiency causes

A

megaloblastic anemia and subacute combined degeneration (all 3 spinal tracts)

111
Q

Chylomicron apolipoproteins

A

Apo-E, C II, and B 48

112
Q

Essential amino acids

A

PVT TIM HaLL: phenylalanine, valine, tryptophan, threonine, isoleucine, methionine, histidine, leucine, lysine

113
Q

Patau syndrome cause

A

trisomy 13

114
Q

Osteogenesis Imperfecta presentation

A

BITE: Bones, I(eye - blue sclera), teeth, ear

115
Q

Hurler and Hunter syndrome

A

Mucopolysaccharidoses

116
Q

Kartegener syndrome findings

A

situs inversus, hearing loss, recurrent infections, infertility

decreased nasal NO is used to screen

117
Q

Edward syndrome finidngs

A

PRINCE: Prominent occiput, rocker-bottom feet, Intellectual disability, non-disjunction, ears are low set

death by age 1

118
Q

Muscular dystrophy inheritance

A

X-linked

119
Q

most common urea cycle disorder

A

Ornithine transcarbamylase deficiency

120
Q

Cause of Wernicke-Korsakoff syndrome

A

B1 deficiency –> glucose infusion –> damage to medial dorsal nucleus of thalamus and mamillary bodies

121
Q

Oligomycin target

A

ETC complex V

122
Q

B2 (riboflavin) deficiency

A

Chielosis, “magenta” tongue, corneal vascularization

123
Q

Treatment of acute promyelocytic leukemia

A

all-trans retinoic acid

124
Q

Williams syndrome cause

A

microdeletion on chromosome 7 –> “elfin” facies

125
Q

Fabry disease presentation

A

triad of episodic peripheral neuropathy, angiokeratomas, and hypohidrosis

126
Q

Name the purines

A

Adenine and guanine

127
Q

Myotonic dystrophy pathophysiology

A

CTG repeat expansion in DMPK gene –> onset 20-30 years –> CTG: cataracts, toupees, gonadal atrophy

128
Q

Rate limiting enzyme of glycogenolysis

A

glycogen phosphorylase

129
Q

Vitamin B1 (thiamine) deficiency

A

impaired glucose breakdown –> glucose infusion worsens ATP depletion

130
Q

Cardiomyopathy, hypotonia, exercise intolerance

A

Pompe disease - Pompe trashes the pump

131
Q

Vitamin B3

A

niacin –> NAD+

132
Q

Colchicine use

A

karyotyping - arrests cells in metaphase

133
Q

glucokinase is found in

A

liver, beta cells

134
Q

Kinesin transport direction

A

anterograde

135
Q

Gaucher disease

A

Glucocerebrosidase loss

136
Q

Hartnup Disease

A

AR deficiency of neutral AA transport –> decreased niacin production –> Pellagra like symptoms

137
Q

Apo-E function

A

mediates remnant uptake

138
Q

Fabry disease

A

alpha-galactosidase loss –> ceramide trihexoside accumulation

139
Q

Location of glucose-6-phosphotase

A

smooth ER

140
Q

Apo-B 100

A

originates in liver, binds LDL receptor

141
Q

Kartegener syndrome defect

A

AR dynein arm defect –> immotile cilia

142
Q

Nissl bodies

A

rough ER in neurons

143
Q

Defective in Xeroderma Pigmentostum

A

Nucleotide Excision Repair

144
Q

Deficiency in Ataxia-Telangiectasia

A

Non-homologous end joining

145
Q

Vitamin B2

A

Riboflavin –> FAD

146
Q

Which amino acids are necessary for purine synthesis?

A

GAG - glycine, aspartate, and glutamine

147
Q

Dynein transport direction

A

retrograde

148
Q

Glugenic and ketogenic amino acids

A

Isoleucine, phenylalanine, tryptophan, threonine

149
Q

Ehlers-Danlos syndrome mechanism

A

faulty collagen synthesis

150
Q

Vitamin B12

A

cobalamin

151
Q

Apo-B 48

A

originates in intestines, mediates chylomicron secretion

152
Q

Cardiac glycoside (digoxin) target

A

Na-K-ATPase

153
Q

Marasmus

A

Malnutrition not causing edema

154
Q

Osteogenesis Imperfecta defect

A

Collagen glycosylation (usually AD)

155
Q

G6PD deficiency clinical features

A

x linked, bite cells and heinz bodies

156
Q

HDL apoliproteins

A

Apo-E, A I, C II

157
Q

Drugs that block purine synthesis:

A

G-MP, mycophenylate, and ribavirin

158
Q

B6 (pyroxidine) deficiency

A

convulsions, hyper-irritability, peripheral neuropathy, sideroblastic anemia

159
Q

When does nucleotide excision repair occur

A

G1

160
Q

Aspiring overdose

A

disrupts mithocondrial membrane –> no electron transport

161
Q

Hyperammonemia presentation

A

flapping tremor, slurring speech, vomiting, cerebral edema, blurred vision

162
Q

substances that metabolize to propionyl-CoA

A

VOMIT: valine, odd chain fatty acids, methionine, isoleucine, threonine

163
Q

Cause of Maple Syrup Urine disease

A

blocked degradation of Isoleucine, leucine, and valine (B1 loss) –> increased alpha-keto acids in blood.

164
Q

Vitamin B1

A

thiamine

165
Q

Ornithine transcarbamylase deficiency presentation

A

increased orotic acid, symtpoms of hyperammonemia

166
Q

Rate limiting enzyme of gluconeogenesis

A

F-1,6-BP1

167
Q

Andersen disease presentation

A

hepatosplenomegaly and failure to thrive

168
Q

Rate limiting enzyme of HMP shunt

A

G6PD

169
Q

Gaucher disease presentation

A

hepatosplenomegally, pancytopenia, osteoporosis, avascular necrosis of femur head, Gaucher cells

170
Q

Krabbe disease

A

Glacatocerebrosidase loss

171
Q

Angelman syndrome presenation

A

SAIL: seizures, ataxia, Intellectual disability, (inappropriate) laughter

172
Q

Zellweger syndrome defect

A

AR disorder of peroxisomes

173
Q

Fragile X presentation (<200 repeats)

A

tremor, ataxia, primary ovarian insufficency

174
Q

Hyperammonemia treatment

A
  • Lactulose to acidify GI and trap NH4
  • Abx if bacterial cause
  • Benzoate, phenylacetate or phenylbutyrate to increase glycine and glutamine excretion
175
Q

Increased glycogen in muscle that can’t be broken down causing painful cramps and myoglobinuria (red urine)

A

McArdle disease

176
Q

Excess vitamin A (acute)

A

nausea, vomiting, increased ICP

177
Q

Metachromatic leukodystrophy

A

Arylsulfatase A loss –> cerebroside sulfate accumulation

178
Q

Rate limiting enzyme of glycogenesis

A

glycogen synthase

179
Q

three ketone bodies

A

acetone, acetoacetate, beta-hydroxybutyrate

180
Q

Rate limiting enzyme of fatty acid oxidation

A

Carnitine acyl transferase

181
Q

Ragged red muscle fibers

A

mitochondrial myopathy

182
Q

Kwashiorkor presentation

A

MEALS: malnutrition, edema, anemia, liver is fatty, skin lesions

183
Q

Weird cause of B7 (biotin) deficiency

A

excessive consumption of egg white

184
Q

Cori disease presentation

A

like Von Gierke, but mild and normal blood lactate. Gluconeogenesis is intact.

185
Q

PKU is caused by

A

lack of phenylalanine hydroxylase

186
Q

McCune-Albright syndrome defect

A

G_s-protein activating mutation, lethal unless mosaic

187
Q

Marfan defect

A

Fibrillin 1

188
Q

Down syndrome cause

A

trisomy 21

189
Q

alkaptonuria is caused by

A

lack of homogentisate oxidase

190
Q

Na-K-ATPase function

A

2 K in, 3 Na out

191
Q

Alkaptonuria findings

A

pigment forming homogentisic acid builds up in tissues –> blue-black CT, ears, sclera; urine oxidizes black

192
Q

McCune-Albright syndrome presentation

A

unilateral cafe-au-lait spots with ragged edges, bone is replaced by collagen and fibroblasts, endocrinopathy

193
Q

Hereditary fructose intolerance is caused by

A

deficiency of Aldolase B

194
Q

Drugs that inhibit ETC complex I

A

Rotenone, metformin

195
Q

Defective in Lynch Syndrome (HNPCC)

A

Mismatch repair

196
Q

Hardy-Weinberg equation

A

p^2 + 2pq + q^2 = 1

first aid stuff i don't know (10 decks)

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