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BOARD Exam > Week 6: Biochemical Genetics > Flashcards

Week 6: Biochemical Genetics Flashcards

1
Q

Inheritance of PKU

A

AR

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2
Q

Enzyme deficiency in PKU

A

Phenylalanine hydroxylase

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3
Q

3 major features of PKU

A

Mousy/musty odor, DD/ID, epilepsy

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4
Q

Treatment for PKU

A

Dietary phe restriction and metabolic formula

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5
Q

Inheritance of Tyrosinemia Type 1

A

AR

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6
Q

Enzyme deficiency for Tyrosinemia Type 1

A

FAH

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7
Q

3 major features of Tyrosinemia Type 1

A

Cabbage-like odor in urine, liver/renal dysfunction, rickets, neurologic crises

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8
Q

Treatment for Tyrosinemia Type 1

A

Dietary phe/tyr restriction with formula; liver transplant

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9
Q

Inheritance of Maple Syrup Urine Disease

A

AR

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10
Q

Enzyme deficiency in MSUD

A

Branch chain keto-acid dehydrogenase

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11
Q

3 major features of MSUD

A

Maple syrup odor in urine, progressive encephalopathy, respiratory failure

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12
Q

Treatment for MSUD

A

Dietary restriction of BCAAs with formula

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13
Q

Inheritance of Homocystinuria

A

AR

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14
Q

Enzyme deficiency in homocystinuria

A

cystathionine beta synthase

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15
Q

3 major features of homocystinuria

A

Marfanoid skeletal changes, ectopia lentis, neuropsych disease, thromboembolism

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16
Q

Treatment for homocystinuria

A

Dietary restriction of Met with formula; B6; Betaine

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17
Q

Inheritance of non-ketotic hyperglycemia

A

AR

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18
Q

Enzyme deficiency in non-ketotic hyperglycemia

A

glycine cleavage system

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19
Q

3 major features of NKH

A

Intractable neonatal seizures, encephalopathy, hypotonia

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20
Q

Treatment for NKH

A

Sodium benzoate, dextromethorphan

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21
Q

Inheritance of OTC

A

XLR

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22
Q

Enzyme deficiency in OTC

A

Ornithine thranscarbamylase

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23
Q

3 major features of OTC deficiency

A

progressive hyperammoneia encephalopathy; recurrent headaches, neuropsych problems

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24
Q

Chronic treatment for OTC

A

Protein restriction and formula, oral citrulline/ammonia scavengers

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25
Q

Inheritance of ASS1 deficiency

A

AR

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26
Q

Enzyme deficiency in ASS1

A

Argininosuccinic acid synthetase I

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27
Q

3 major features of ASS1 deficiency

A

progressive hyperammonemia encephalopathy, recurrent headaches, liver failure

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28
Q

Chronic treatment for ASS1 deficiency

A

Protein restriction and formula, oral arginine/ammonia scavengers

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29
Q

Inheritance of ASL deficiency

A

AR

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30
Q

Enzyme deficiency in ASL deficiency

A

Argininosuccinate lyase

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31
Q

3 major features of ASL deficiency

A

progressive hyperammonemia encephalopathy, brittle hair, HTN, liver failure

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32
Q

Chronic treatment for ASL deficiency

A

protein restriction and formila, oral arginine/ammonia scavengers

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33
Q

Inheritance of ARG deficiency

A

AR

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34
Q

Enzyme deficiency in ARG deficiency

A

arginase

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35
Q

3 major features of ARG deficiency

A

slow growth, developmental regression, spasticity and seizures

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36
Q

Chronic treatment for ARG deficiency

A

Protein restriction and formula, oral ammonia scavengers

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37
Q

Inheritance of NAGS and CPS1 deficiency

A

AR

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38
Q

Enzyme deficiency in NAGS and CPS1

A

N-acetylglutamate synthetase; carbamoyl phosphate synthetase deficiency

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39
Q

3 major features of NAGS/CPS1 deficiency

A

progressive hyperammonemia encephalopathy

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40
Q

Chronic treatment for NAGS/CPS1 deficiency

A

protein restriction and formula, oral citrulline/ammonia scavengers

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41
Q

Inheritance of propionic acidemia

A

AR

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42
Q

Enzyme deficiency in propionic acidemia

A

propionyl-CoA carboxylase

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43
Q

3 major features of propionic acidemia

A

Poor feeding, lethargy, vomiting, hypotonia, encephalopathy

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44
Q

Chronic treatment of propionic acidemia

A

MTVI restriction and formula, L-citrulline, biotin, antibiotics

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45
Q

Inheritance of methylmalonic acidemia

A

AR

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46
Q

Enzyme deficiency in Methylmalonic Acidemia

A

methylmalonyl-CoA mutase, Cobalamin, Methylmalonyl-CoA Epimerase

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47
Q

3 major features of methylmalonic acidemia

A

Poor feeding, lethargy, vomiting, hypotonia, encephalopathy

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48
Q

Chronic treatment for methylmalonic acidemia

A

MTVI restriction and formula, L-carnitine, B12, antibiotics

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49
Q

Inheritance of isovaleric acidemia

A

AR

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50
Q

Enzyme deficiency in isovaleric acidemia

A

isoValeryl-CoA Dehydrogenase

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51
Q

3 major features of isovaleric acidemia

A

Poor feeding, lethargy, sweaty foot odor, encephalopathy

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52
Q

Chronic treatment of isovaleric acidemia

A

Leu restriction and formula, L-carnitine, L-glycine

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53
Q

Inheritance of biotinidase deficiency

A

AR

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54
Q

Enzyme deficiency in biotinidase deficiency

A

biotinidase

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55
Q

3 major features of biotinidase deficiency

A

DD, seizures, ataxia, hearing loss, alopecia, eczematous skin rash, vision loss, limb weakness

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56
Q

Chronic treatment of biotinidase deficiency

A

biotin therapy

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57
Q

Inheritance of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency

A

AR

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58
Q

Enzyme deficiency in 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency

A

3-MCC carboxylase

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59
Q

3 major features of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency

A

Episodic liver dysfunction, hypotonia, hypoglycemia, DD, seizures

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60
Q

Chronic treatment of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency

A

Leu restriction and formula, carnitine and biotin supplement

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61
Q

Inheritance of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency

A

AR

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62
Q

Enzyme deficiency in 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency

A

3-HMG-CoA Lyase

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63
Q

3 major features of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency

A

Liver dysfunction (Reye), hyperammonemia, hypoglycemia

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64
Q

Chronic treatment of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency

A

Leu restriction and formula, carnitine supplement

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65
Q

Inheritance of Glutaric acidemia type 1

A

AR

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66
Q

Enzyme deficiency in Glutaric acidemia type 1

A

glutaryl-CoA dehydrogenase

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67
Q

3 major features of Glutaric Acidemia type 1

A

Neurologic decompensation- encephalopathy, ataxia, epilepsy, stroke-like episodes

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68
Q

Chronic treatment for glutaric acidemia type 1

A

Lys/Trp restriction and formula, riboflavin B2, carnitine

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69
Q

Inheritance of Galactosemia

A

AR

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70
Q

Enzyme deficiency for Galactosemia

A

galactose-1-phosphate uridylyltransferase

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71
Q

3 major features of Galactosemia

A

lethary, liver and renal dysfunction, cataracts

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72
Q

Treatment of Galactosemia

A

Dietary restriction of galactose

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73
Q

Inheritance of Glactokinase deficiency

A

AR

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74
Q

Enzyme deficiency in Galactokinase deficiency

A

Galactokinase 1

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75
Q

1 feature of Galactokinase Deficiency

A

Cataracts

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76
Q

Inheritance of GALE deficiency

A

AR

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77
Q

Enzyme deficiency in GALE deficiency

A

UDP-galactose-4-epimerase

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78
Q

3 clinical features of GALE deficiency

A

Cataracts, delayed growth/development, ID, liver and kidney problems

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79
Q

Inheritance of Fructosemia

A

AR

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80
Q

Enzyme deficiency in Fructosemia

A

fructose-1-P Aldolase B

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81
Q

3 major features of fructosemia

A

Lethargy, liver and kidney dysfunction, hypoglycemia, liver failure, acidosis, growth failure

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82
Q

Treatment of Fructosemia

A

Dietary restriction of fructose

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83
Q

Inheritance of Fructokinase deficiency

A

AR

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84
Q

Enzyme deficiency in fructokinase deficiency

A

Fructokinase

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85
Q

Clinical features in Fructokinase deficiency

A

None

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86
Q

Inheritance of Fructose-1,6-Bisphosphatase Deficiency

A

AR

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87
Q

Enzyme deficiency in Fructose-1,6-Bisphosphatase Deficiency

A

Fructose-1,6-Bisphosphatase

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88
Q

3 major features of Fructose-1,6-Bisphosphatase Deficiency

A

Episodes of hypoglycemia, lactic acidosis, hyperventilation

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89
Q

Chronic treatment of Fructose-1,6-Bisphosphatase Deficiency

A

Avoid fasting, limit fructose

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90
Q

Inheritance of Von Gierke disease

A

AR

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91
Q

Enzyme deficiency in Von Gierke disease

A

Glucose-6-phosphatase

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92
Q

3 major clinical features of von gierke disease

A

hepatomegaly, hypoglycemia, hyperuricemia, hyperlipidemia, doll-like face

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93
Q

Treatment for Von Gierke disease

A

Avoid fasting and maintain blood glucose

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94
Q

Inheritance of Pompe disease

A

AR

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95
Q

Enzyme deficiency in Pompe disease

A

Glucosidase acid alpha

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96
Q

3 major features of Pompe disease

A

Muscle and organ enlargement- macroglossia, cardiomegaly, HSM; progressive muscle breakdown and weakness

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97
Q

Treatment for Pompe disease

A

ERT

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98
Q

Inheritance of McArdle Disease

A

AR

99
Q

Enzyme deficiency in McArdle Disease

A

myophosphorylase

100
Q

3 major clinical features of McArdle Disease

A

Exercise-induced muscle cramps and pain, myoglobinuria, poor exercise capacity

101
Q

Treatment for McArdle Disease

A

Submaximal aerobic exercise, carb-rich diet

102
Q

Inheritance of GLUT1 deficiency

A

AD

103
Q

Enzyme deficiency in GLUT1

A

GLUT1

104
Q

3 major features of GLUT1 deficiency

A

Seizures, DD, microcephaly, complex movement disorder

105
Q

Treatment of GLUT1 deficiency

A

Ketogenic diet, L-carnitine, avoid glucose

106
Q

Inheritance of OCTN2 deficiency

A

AR

107
Q

Gene for OCTN2 deficiency

A

SLC22A5

108
Q

2 features of childhood onset OCTN2 deficiency

A

myopathy, cardiomyopathy

109
Q

Treatment for OCTN2 deficiency

A

high-dose carnitine, avoid fasting

110
Q

Inheritance of CPT1A deficiency

A

AR

111
Q

Enzyme deficiency in CPT1A deficiency

A

carnitine palmitoyltransferase I

112
Q

2 major features of CPT1A deficiency

A

hypoketotic hypoglycemia, liver failure

113
Q

Treatment for CPT1A deficiency

A

avoid fasting, frequent feeding, cornstach, MTC oil

114
Q

Inheritance of CPT2 and CACT deficiency

A

AR

115
Q

Enzyme deficiency in CPT2 and CACT deficiency

A

carnitine palmitoyl transferase II; carnitine acylcarnitine translocase

116
Q

3 major features of neonatal onset CPT2 and CACT deficiency

A

Hypoketotic hypoglycemia, liver failure, cardiomyopathy

117
Q

Treatment for CPT2 and CACT deficiency

A

Avoid fasting, frequent feeding, cornstrach, MCT oil

118
Q

Inheritance of VLCAD deficiency

A

AR

119
Q

Enzyme deficiency in VLCAD deficiency

A

very long chain acyl-coA dehydrogenase

120
Q

3 major features of infant-onset VLCAD deficiency

A

Hypoketotic hypoglycemia, liver failure, myopathy, cardiomyopathy

121
Q

Treatment of VLCAD deficiency

A

avoid fasting, frequent feeding, cornstarch, MCT oil, carnitine

122
Q

Inheritance of MCAD deficiency

A

AR

123
Q

Enzyme deficiency in MCAD deficiency

A

medium chain acyl-CoA dehydrogenase

124
Q

3 major features of MCAD deficiency

A

hypoketotic hypoglycemia, liver disease, often sudden death

125
Q

Treatment of MCAD deficiency

A

avoid fasting, frequent feeding, cornstarch, carnitine

126
Q

Inheritance of SCAD deficiency

A

AR

127
Q

Enzyme deficiency in SCAD deficiency

A

short chain acyl-CoA dehydrogenase

128
Q

Clinical features of SCAD deficiency

A

None

129
Q

Treatment of SCAD deficiency

A

avoid fasting, frequent feeding

130
Q

Inheritance of LCHAD deficiency

A

AR

131
Q

Enzyme deficiency in LCHAD deficiency

A

long chain 3-hydroxyacyl- CoA dehydrogenase

132
Q

3 major features of LCHAD deficiency

A

Hypoketotic hypoglycemia, myopathy, cardiomyopathy, liver disease, pigmeneted retionpathy, neuropathy

133
Q

Treatment of LCHAD deficiency

A

Avoid fasting, frequent feeding, cornstarch, MCT oil

134
Q

Inheritance of Fabry disease

A

XLR

135
Q

Enzyme deficiency in Fabry disease

A

GLA

136
Q

3 major features of Fabry disease

A

Painful/burning episodes, cutaneous spots, dyshidrosis, ocular opacities, renal/cardio problems

137
Q

Treatment of Fabry disease

A

ERT

138
Q

Inheritance of Gaucher disease

A

AR

139
Q

Enzyme deficiency in Gaucher disease

A

GBA

140
Q

3 major features of non-neuropathic Gaucher

A

Bone disease, cytopenias, pulmonary involvement, HSM, Parkinson’s disease

141
Q

3 major features of neuropathic Gaucher disease

A

Neurodegeneration- FTT, minimal development, HSM

142
Q

Preventative treatment for Gaucher disease

A

ERT, SRT, BMT

143
Q

Inheritance of Niemann Pick Disease

A

AR

144
Q

Enzyme deficiency in Niemann Pick Disease

A

SMPD1

145
Q

3 major features of Type A niemann Pick

A

neurodegeneration, HSM, lung infection, cherry red spot

146
Q

3 major features of Type B Niemann Pick

A

HSM, decrease in pulmonary function, abnormal lipids

147
Q

Preventative treatment for Niemann Pick

A

BMT, ERT

148
Q

Inheritance of Tay Sachs

A

AR

149
Q

Enzyme deficiency in Tay Sachs

A

HEXA

150
Q

3 major features of Tay Sachs disease

A

Developmental regression, increased startle response, seizures, loss of awareness

151
Q

Treatment for Tay Sachs disease

A

Supportive

152
Q

Inheritance of Krabbe disease

A

AR

153
Q

Enzyme deficiency in Krabbe disease

A

GALC

154
Q

3 major features of Krabbe Disease

A

irritability, FTT, developmental arrest- neurodegeneration

155
Q

Preventative treatment in Krabbe disease

A

HSCT

156
Q

Inheritance of Metachromatic Leukodystrophy

A

AR

157
Q

Enzyme deficiency in metachromatic Leukodystrophy

A

arylsulfatase A

158
Q

3 major features of metachromatic leukodystrophy

A

weakness, slurred speech, developmental arrest, neurodegeneration

159
Q

Preventative treatment in metachromatic leukodystrophy

A

HSCT/BMT

160
Q

MPS- Don’t forget to practice that deck

A

:)

161
Q

Inheritance of XL Adrenoleukodystrophy

A

XLR

162
Q

Gene in XL Adrenoleukodystrophy

A

ABCD1

163
Q

3 major clinical features in XL Adrenoleukodystrophy

A

Normal development–> behavior changes–> rapid neurologic degeneration; adrenocortical insufficiency

164
Q

Preventative treatment of XL Adrenoleukodystrophy

A

Corticosteroid replacement, HSCT/BMT/Lorenzo’s Oil

165
Q

Inheritance of Zellweger Syndrome

A

AR

166
Q

Gene in Zellweger Syndrome

A

PEX

167
Q

3 major features of Zellweger Syndrome

A

Neonatal hypotonia, liver cysts and dysfunction, chondrodysplasia punctata, developmental stagnation

168
Q

Treatment of Zellweger Syndrome

A

Supportive

169
Q

Inheritance of Antley Bixler Syndrome

A

AR

170
Q

Enzyme deficiency in Antley Bixler Syndrome

A

Cytochrome P450 Oxidoreductase

171
Q

3 major clinical features of Antley Bixler Syndrome

A

Arthrogryposis, choanal atresia, ambiguous genitalia, cortisol deficiency

172
Q

Treatment for Antley-Bixler Syndrome

A

Adrenal corticosteroids, cortisol replacement

173
Q

Inheritance of CHILD Syndrome

A

XLD

174
Q

Gene in CHILD syndrome

A

NSDHL

175
Q

CHILD stands for

A

Congenital Hemidysplasia Ichthyosis Nevus and Limb Defects

176
Q

Inheritance of CK Syndrome

A

XLR

177
Q

Gene in CK Syndrome

A

NSDHL

178
Q

3 major features of CK syndrome

A

Severe cognitive and behavioral problems, Marfan-like body habitus, infantile seizures

179
Q

Inheritance of XL Chondrodysplasia Punctata 2

A

XLD

180
Q

Gene in XL Chondrodysplasia Punctata 2

A

EBP

181
Q

3 major features of XL Chondrodysplasia Punctata 2

A

sparse eyebrows and lashes, chondrodysplasia punctata, rhizomelic limb shortening, newborn ichthyosis, coarse hair/scarring alopecia

182
Q

Inheritance of Smith Lemli Opitz

A

AR

183
Q

Enzyme deficiency in Smith Lemli Opitz

A

7-dehydrocholesterol reductase

184
Q

3 major features of SLO

A

Growth restriction, ID, CHD, CL+P, GU anomalies, 2-3 Y-shaped toe syndactyly

185
Q

Inheritance of Niemann-Pick Type C

A

AR

186
Q

Genes for Niemann-Pick Type C

A

NPC1, NPC2

187
Q

3 major features of Niemann Pick Type C

A

Vertical supranuclear gaze palsy, progressive ataxia, cognitive deterioration

188
Q

Inheritance of familial hypercholesterolemia

A

AD

189
Q

Gene for Familial hypercholesterolemia

A

LDLR

190
Q

3 major features of Familial Hypercholesterolemia

A

Elevated LDL and cholesterol, xanthomas, artheromas

191
Q

Treatment for familial hypercholesterolemia

A

Restrict cholesterol; statins, plasmapheresis

192
Q

Inheritance of Familial Lipoprotein Lipase Deficiency

A

AR

193
Q

Enzyme deficiency in Familial Lipoprotein Lipase Deficiency

A

Familial Lipoprotein Lipase

194
Q

3 major features of Familial Lipoprotein Lipase Deficiency

A

recurrent abdominal pain and pancreatitis, HSM, xanthomas

195
Q

Treatment for Familial Lipoprotein Lipase Deficiency

A

Dietary fat restriction

196
Q

Inheritance of Dysbetalipoproteinemia

A

AR

197
Q

Gene in Dysbetalipoproteinemia

A

APOE2

198
Q

3 major features of Dysbetalipoproteinemia

A

Early-onset cardiovasular and peripheral vascular disease, palmar xanthomas

199
Q

Treatment for Dysbetalipoproteinemia

A

dietary fat and cholesterol restriction

200
Q

Inheritance of Lecithin Cholesterol Acyltransferase Deficiency

A

AR

201
Q

3 major features of Lecithin Cholesterol Acyltransferase Deficiency

A

Renal failure, corneal opacities, anemia

202
Q

Inheritance of abetalipoproteinemia

A

AR

203
Q

Gene in abetalipoprotienemia

A

MTP, APOB

204
Q

3 major features of abetalipoproteinemia

A

fat malabsorption, growth failure, ataxia, retinitis pigmentoa, acanthyocyctic RBCs

205
Q

Treatment for Abetalipoproteinemia

A

High dose vit E, MCT oil

206
Q

Inheritance of Wilson’s disease

A

AR

207
Q

Gene in Wilson’s Disease

A

ATP7B

208
Q

3 major features of Wilson’s disease

A

Liver disease, movement disorders, psych symptoms, Kayser-Fleischer rings

209
Q

Treatment of Wilson’s disease

A

Copper chelation, decrease copper intake

210
Q

Inheritance and Menkes disease

A

XLR

211
Q

Gene in Menkes Disease

A

ATP7A

212
Q

3 major features of Menkes disease

A

loss of developmental milestones, sparse/brittle hair, lax skin, vascular tortuosity, temperature instability, hypotension, FTT

213
Q

Treatment of Menkes disease

A

Copper histidine or copper chloride injections

214
Q

Inheritance of hemochromatosis

A

AR

215
Q

Gene for hemochromatosis

A

HFE

216
Q

3 major features of hemochromatosis

A

arthritis, hepatomegaly, cardiomyopathy/arrhythmias, DM, hypogonadism

217
Q

Treatment of hemochromatosis

A

weekly phlebotomy, chelation; liver transplant

218
Q

Inheritance of Neurodegeneration with Brain Iron Accumulation

A

AR

219
Q

3 major features of Neurodegeneration with Brain Iron Accumulation

A

Movement disorder, neuropsych disease, optic atrophy

220
Q

Porphyrias- you have a whole deck on it

A

:)

221
Q

Inheritance of PMM2-CDG

A

AR

222
Q

3 major features of PMM2-CDG

A

DD/ID, SQ fat maldistribution, liver and kidney disease

223
Q

Inheritance of MPI-CDG

A

AR

224
Q

3 major features of MPI-CDG

A

FTT, liver dysfunction, coagulopathy, thrombosis

225
Q

Treatment for MPI-CDG

A

Oral mannose supplementation

226
Q

Lecithin Cholesterol Acyltransferase Deficiency AGAT distinguisher

A

no ataxia, dystonia, chorea

227
Q

Lecithin Cholesterol Acyltransferase Deficiency GAMT distinguisher

A

self-injury

228
Q

Lecithin Cholesterol Acyltransferase Deficiency SLC6A8 distinguisher

A

XLR and dysmorphic features

229
Q

Inheritance of Lesch-Nyhan Syndrome

A

XLR

230
Q

3 major features of Lesch-Nyhan Syndrome

A

ID, self-injury, hyperuricemia, kidney stones, renal failure, gout

231
Q

Inheritance of Dopa Responsive Dystonia

A

AD

232
Q

Gene in Dopa Responsive Dystonia

A

GTPCH1

233
Q

3 major features of Dopa Responsive Dystonia

A

Dystonia, Parkinsonian features, diurnal fluctuation

234
Q

Treatment for Dopa Responsive Dystonia

A

L-Dopa

235
Q

Inheritance of Sepiapterin Reductase Deficiency

A

AR

236
Q

3 major features of Sepiapterin Reductase deficiency

A

hypotonia, dystonia, autonomic dysfunction, oculogyric crises, diurnal fluctuation

237
Q

Inheritance of Aromatic L-Amino Acid Decarboxylase Deficiency

A

AR

238
Q

3 major features of Aromatic L-Amino Acid Decarboxylase Deficiency

A

Infantile ID, dystonia, autonomic instability, oculogyric crises

239
Q

Inheritance of Monoamine Oxidase Deficiency

A

XLR

240
Q

3 major features of Monoamine Oxidase Deficiency

A

ID, psychosis, impulsive/aggressive/antisocial

241
Q

Inheritance of Glutathione Synthetase Deficiency

A

AR

242
Q

3 major features of Glutathione Synthetase Deficiency

A

Hemolytic anemia, metabolic acidosis, neurodegeneration and infection

243
Q

Inheritance of trimethylaminuria

A

AR

244
Q

Major clinical feature of trimethylaminuria

A

Fishy odor in body fluids

BOARD Exam (28 decks)

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