Week 6: Biochemical Genetics Flashcards
1
Q
Inheritance of PKU
A
AR
2
Q
Enzyme deficiency in PKU
A
Phenylalanine hydroxylase
3
Q
3 major features of PKU
A
Mousy/musty odor, DD/ID, epilepsy
4
Q
Treatment for PKU
A
Dietary phe restriction and metabolic formula
5
Q
Inheritance of Tyrosinemia Type 1
A
AR
6
Q
Enzyme deficiency for Tyrosinemia Type 1
A
FAH
7
Q
3 major features of Tyrosinemia Type 1
A
Cabbage-like odor in urine, liver/renal dysfunction, rickets, neurologic crises
8
Q
Treatment for Tyrosinemia Type 1
A
Dietary phe/tyr restriction with formula; liver transplant
9
Q
Inheritance of Maple Syrup Urine Disease
A
AR
10
Q
Enzyme deficiency in MSUD
A
Branch chain keto-acid dehydrogenase
11
Q
3 major features of MSUD
A
Maple syrup odor in urine, progressive encephalopathy, respiratory failure
12
Q
Treatment for MSUD
A
Dietary restriction of BCAAs with formula
13
Q
Inheritance of Homocystinuria
A
AR
14
Q
Enzyme deficiency in homocystinuria
A
cystathionine beta synthase
15
Q
3 major features of homocystinuria
A
Marfanoid skeletal changes, ectopia lentis, neuropsych disease, thromboembolism
16
Q
Treatment for homocystinuria
A
Dietary restriction of Met with formula; B6; Betaine
17
Q
Inheritance of non-ketotic hyperglycemia
A
AR
18
Q
Enzyme deficiency in non-ketotic hyperglycemia
A
glycine cleavage system
19
Q
3 major features of NKH
A
Intractable neonatal seizures, encephalopathy, hypotonia
20
Q
Treatment for NKH
A
Sodium benzoate, dextromethorphan
21
Q
Inheritance of OTC
A
XLR
22
Q
Enzyme deficiency in OTC
A
Ornithine thranscarbamylase
23
Q
3 major features of OTC deficiency
A
progressive hyperammoneia encephalopathy; recurrent headaches, neuropsych problems
24
Q
Chronic treatment for OTC
A
Protein restriction and formula, oral citrulline/ammonia scavengers
25
Inheritance of ASS1 deficiency
AR
26
Enzyme deficiency in ASS1
Argininosuccinic acid synthetase I
27
3 major features of ASS1 deficiency
progressive hyperammonemia encephalopathy, recurrent headaches, liver failure
28
Chronic treatment for ASS1 deficiency
Protein restriction and formula, oral arginine/ammonia scavengers
29
Inheritance of ASL deficiency
AR
30
Enzyme deficiency in ASL deficiency
Argininosuccinate lyase
31
3 major features of ASL deficiency
progressive hyperammonemia encephalopathy, brittle hair, HTN, liver failure
32
Chronic treatment for ASL deficiency
protein restriction and formila, oral arginine/ammonia scavengers
33
Inheritance of ARG deficiency
AR
34
Enzyme deficiency in ARG deficiency
arginase
35
3 major features of ARG deficiency
slow growth, developmental regression, spasticity and seizures
36
Chronic treatment for ARG deficiency
Protein restriction and formula, oral ammonia scavengers
37
Inheritance of NAGS and CPS1 deficiency
AR
38
Enzyme deficiency in NAGS and CPS1
N-acetylglutamate synthetase; carbamoyl phosphate synthetase deficiency
39
3 major features of NAGS/CPS1 deficiency
progressive hyperammonemia encephalopathy
40
Chronic treatment for NAGS/CPS1 deficiency
protein restriction and formula, oral citrulline/ammonia scavengers
41
Inheritance of propionic acidemia
AR
42
Enzyme deficiency in propionic acidemia
propionyl-CoA carboxylase
43
3 major features of propionic acidemia
Poor feeding, lethargy, vomiting, hypotonia, encephalopathy
44
Chronic treatment of propionic acidemia
MTVI restriction and formula, L-citrulline, biotin, antibiotics
45
Inheritance of methylmalonic acidemia
AR
46
Enzyme deficiency in Methylmalonic Acidemia
methylmalonyl-CoA mutase, Cobalamin, Methylmalonyl-CoA Epimerase
47
3 major features of methylmalonic acidemia
Poor feeding, lethargy, vomiting, hypotonia, encephalopathy
48
Chronic treatment for methylmalonic acidemia
MTVI restriction and formula, L-carnitine, B12, antibiotics
49
Inheritance of isovaleric acidemia
AR
50
Enzyme deficiency in isovaleric acidemia
isoValeryl-CoA Dehydrogenase
51
3 major features of isovaleric acidemia
Poor feeding, lethargy, sweaty foot odor, encephalopathy
52
Chronic treatment of isovaleric acidemia
Leu restriction and formula, L-carnitine, L-glycine
53
Inheritance of biotinidase deficiency
AR
54
Enzyme deficiency in biotinidase deficiency
biotinidase
55
3 major features of biotinidase deficiency
DD, seizures, ataxia, hearing loss, alopecia, eczematous skin rash, vision loss, limb weakness
56
Chronic treatment of biotinidase deficiency
biotin therapy
57
Inheritance of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency
AR
58
Enzyme deficiency in 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency
3-MCC carboxylase
59
3 major features of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency
Episodic liver dysfunction, hypotonia, hypoglycemia, DD, seizures
60
Chronic treatment of 3-MethylCrotonyl-CoA (3-MCC) Carboxylase Deficiency
Leu restriction and formula, carnitine and biotin supplement
61
Inheritance of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency
AR
62
Enzyme deficiency in 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency
3-HMG-CoA Lyase
63
3 major features of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency
Liver dysfunction (Reye), hyperammonemia, hypoglycemia
64
Chronic treatment of 3-Hydroxy-3-Methylglutaryl (3-HMG) CoA Lyase Deficiency
Leu restriction and formula, carnitine supplement
65
Inheritance of Glutaric acidemia type 1
AR
66
Enzyme deficiency in Glutaric acidemia type 1
glutaryl-CoA dehydrogenase
67
3 major features of Glutaric Acidemia type 1
Neurologic decompensation- encephalopathy, ataxia, epilepsy, stroke-like episodes
68
Chronic treatment for glutaric acidemia type 1
Lys/Trp restriction and formula, riboflavin B2, carnitine
69
Inheritance of Galactosemia
AR
70
Enzyme deficiency for Galactosemia
galactose-1-phosphate uridylyltransferase
71
3 major features of Galactosemia
lethary, liver and renal dysfunction, cataracts
72
Treatment of Galactosemia
Dietary restriction of galactose
73
Inheritance of Glactokinase deficiency
AR
74
Enzyme deficiency in Galactokinase deficiency
Galactokinase 1
75
1 feature of Galactokinase Deficiency
Cataracts
76
Inheritance of GALE deficiency
AR
77
Enzyme deficiency in GALE deficiency
UDP-galactose-4-epimerase
78
3 clinical features of GALE deficiency
Cataracts, delayed growth/development, ID, liver and kidney problems
79
Inheritance of Fructosemia
AR
80
Enzyme deficiency in Fructosemia
fructose-1-P Aldolase B
81
3 major features of fructosemia
Lethargy, liver and kidney dysfunction, hypoglycemia, liver failure, acidosis, growth failure
82
Treatment of Fructosemia
Dietary restriction of fructose
83
Inheritance of Fructokinase deficiency
AR
84
Enzyme deficiency in fructokinase deficiency
Fructokinase
85
Clinical features in Fructokinase deficiency
None
86
Inheritance of Fructose-1,6-Bisphosphatase Deficiency
AR
87
Enzyme deficiency in Fructose-1,6-Bisphosphatase Deficiency
Fructose-1,6-Bisphosphatase
88
3 major features of Fructose-1,6-Bisphosphatase Deficiency
Episodes of hypoglycemia, lactic acidosis, hyperventilation
89
Chronic treatment of Fructose-1,6-Bisphosphatase Deficiency
Avoid fasting, limit fructose
90
Inheritance of Von Gierke disease
AR
91
Enzyme deficiency in Von Gierke disease
Glucose-6-phosphatase
92
3 major clinical features of von gierke disease
hepatomegaly, hypoglycemia, hyperuricemia, hyperlipidemia, doll-like face
93
Treatment for Von Gierke disease
Avoid fasting and maintain blood glucose
94
Inheritance of Pompe disease
AR
95
Enzyme deficiency in Pompe disease
Glucosidase acid alpha
96
3 major features of Pompe disease
Muscle and organ enlargement- macroglossia, cardiomegaly, HSM; progressive muscle breakdown and weakness
97
Treatment for Pompe disease
ERT
98
Inheritance of McArdle Disease
AR
99
Enzyme deficiency in McArdle Disease
myophosphorylase
100
3 major clinical features of McArdle Disease
Exercise-induced muscle cramps and pain, myoglobinuria, poor exercise capacity
101
Treatment for McArdle Disease
Submaximal aerobic exercise, carb-rich diet
102
Inheritance of GLUT1 deficiency
AD
103
Enzyme deficiency in GLUT1
GLUT1
104
3 major features of GLUT1 deficiency
Seizures, DD, microcephaly, complex movement disorder
105
Treatment of GLUT1 deficiency
Ketogenic diet, L-carnitine, avoid glucose
106
Inheritance of OCTN2 deficiency
AR
107
Gene for OCTN2 deficiency
SLC22A5
108
2 features of childhood onset OCTN2 deficiency
myopathy, cardiomyopathy
109
Treatment for OCTN2 deficiency
high-dose carnitine, avoid fasting
110
Inheritance of CPT1A deficiency
AR
111
Enzyme deficiency in CPT1A deficiency
carnitine palmitoyltransferase I
112
2 major features of CPT1A deficiency
hypoketotic hypoglycemia, liver failure
113
Treatment for CPT1A deficiency
avoid fasting, frequent feeding, cornstach, MTC oil
114
Inheritance of CPT2 and CACT deficiency
AR
115
Enzyme deficiency in CPT2 and CACT deficiency
carnitine palmitoyl transferase II; carnitine acylcarnitine translocase
116
3 major features of neonatal onset CPT2 and CACT deficiency
Hypoketotic hypoglycemia, liver failure, cardiomyopathy
117
Treatment for CPT2 and CACT deficiency
Avoid fasting, frequent feeding, cornstrach, MCT oil
118
Inheritance of VLCAD deficiency
AR
119
Enzyme deficiency in VLCAD deficiency
very long chain acyl-coA dehydrogenase
120
3 major features of infant-onset VLCAD deficiency
Hypoketotic hypoglycemia, liver failure, myopathy, cardiomyopathy
121
Treatment of VLCAD deficiency
avoid fasting, frequent feeding, cornstarch, MCT oil, carnitine
122
Inheritance of MCAD deficiency
AR
123
Enzyme deficiency in MCAD deficiency
medium chain acyl-CoA dehydrogenase
124
3 major features of MCAD deficiency
hypoketotic hypoglycemia, liver disease, often sudden death
125
Treatment of MCAD deficiency
avoid fasting, frequent feeding, cornstarch, carnitine
126
Inheritance of SCAD deficiency
AR
127
Enzyme deficiency in SCAD deficiency
short chain acyl-CoA dehydrogenase
128
Clinical features of SCAD deficiency
None
129
Treatment of SCAD deficiency
avoid fasting, frequent feeding
130
Inheritance of LCHAD deficiency
AR
131
Enzyme deficiency in LCHAD deficiency
long chain 3-hydroxyacyl- CoA dehydrogenase
132
3 major features of LCHAD deficiency
Hypoketotic hypoglycemia, myopathy, cardiomyopathy, liver disease, pigmeneted retionpathy, neuropathy
133
Treatment of LCHAD deficiency
Avoid fasting, frequent feeding, cornstarch, MCT oil
134
Inheritance of Fabry disease
XLR
135
Enzyme deficiency in Fabry disease
GLA
136
3 major features of Fabry disease
Painful/burning episodes, cutaneous spots, dyshidrosis, ocular opacities, renal/cardio problems
137
Treatment of Fabry disease
ERT
138
Inheritance of Gaucher disease
AR
139
Enzyme deficiency in Gaucher disease
GBA
140
3 major features of non-neuropathic Gaucher
Bone disease, cytopenias, pulmonary involvement, HSM, Parkinson's disease
141
3 major features of neuropathic Gaucher disease
Neurodegeneration- FTT, minimal development, HSM
142
Preventative treatment for Gaucher disease
ERT, SRT, BMT
143
Inheritance of Niemann Pick Disease
AR
144
Enzyme deficiency in Niemann Pick Disease
SMPD1
145
3 major features of Type A niemann Pick
neurodegeneration, HSM, lung infection, cherry red spot
146
3 major features of Type B Niemann Pick
HSM, decrease in pulmonary function, abnormal lipids
147
Preventative treatment for Niemann Pick
BMT, ERT
148
Inheritance of Tay Sachs
AR
149
Enzyme deficiency in Tay Sachs
HEXA
150
3 major features of Tay Sachs disease
Developmental regression, increased startle response, seizures, loss of awareness
151
Treatment for Tay Sachs disease
Supportive
152
Inheritance of Krabbe disease
AR
153
Enzyme deficiency in Krabbe disease
GALC
154
3 major features of Krabbe Disease
irritability, FTT, developmental arrest- neurodegeneration
155
Preventative treatment in Krabbe disease
HSCT
156
Inheritance of Metachromatic Leukodystrophy
AR
157
Enzyme deficiency in metachromatic Leukodystrophy
arylsulfatase A
158
3 major features of metachromatic leukodystrophy
weakness, slurred speech, developmental arrest, neurodegeneration
159
Preventative treatment in metachromatic leukodystrophy
HSCT/BMT
160
MPS- Don't forget to practice that deck
:)
161
Inheritance of XL Adrenoleukodystrophy
XLR
162
Gene in XL Adrenoleukodystrophy
ABCD1
163
3 major clinical features in XL Adrenoleukodystrophy
Normal development--> behavior changes--> rapid neurologic degeneration; adrenocortical insufficiency
164
Preventative treatment of XL Adrenoleukodystrophy
Corticosteroid replacement, HSCT/BMT/Lorenzo's Oil
165
Inheritance of Zellweger Syndrome
AR
166
Gene in Zellweger Syndrome
PEX
167
3 major features of Zellweger Syndrome
Neonatal hypotonia, liver cysts and dysfunction, chondrodysplasia punctata, developmental stagnation
168
Treatment of Zellweger Syndrome
Supportive
169
Inheritance of Antley Bixler Syndrome
AR
170
Enzyme deficiency in Antley Bixler Syndrome
Cytochrome P450 Oxidoreductase
171
3 major clinical features of Antley Bixler Syndrome
Arthrogryposis, choanal atresia, ambiguous genitalia, cortisol deficiency
172
Treatment for Antley-Bixler Syndrome
Adrenal corticosteroids, cortisol replacement
173
Inheritance of CHILD Syndrome
XLD
174
Gene in CHILD syndrome
NSDHL
175
CHILD stands for
Congenital Hemidysplasia Ichthyosis Nevus and Limb Defects
176
Inheritance of CK Syndrome
XLR
177
Gene in CK Syndrome
NSDHL
178
3 major features of CK syndrome
Severe cognitive and behavioral problems, Marfan-like body habitus, infantile seizures
179
Inheritance of XL Chondrodysplasia Punctata 2
XLD
180
Gene in XL Chondrodysplasia Punctata 2
EBP
181
3 major features of XL Chondrodysplasia Punctata 2
sparse eyebrows and lashes, chondrodysplasia punctata, rhizomelic limb shortening, newborn ichthyosis, coarse hair/scarring alopecia
182
Inheritance of Smith Lemli Opitz
AR
183
Enzyme deficiency in Smith Lemli Opitz
7-dehydrocholesterol reductase
184
3 major features of SLO
Growth restriction, ID, CHD, CL+P, GU anomalies, 2-3 Y-shaped toe syndactyly
185
Inheritance of Niemann-Pick Type C
AR
186
Genes for Niemann-Pick Type C
NPC1, NPC2
187
3 major features of Niemann Pick Type C
Vertical supranuclear gaze palsy, progressive ataxia, cognitive deterioration
188
Inheritance of familial hypercholesterolemia
AD
189
Gene for Familial hypercholesterolemia
LDLR
190
3 major features of Familial Hypercholesterolemia
Elevated LDL and cholesterol, xanthomas, artheromas
191
Treatment for familial hypercholesterolemia
Restrict cholesterol; statins, plasmapheresis
192
Inheritance of Familial Lipoprotein Lipase Deficiency
AR
193
Enzyme deficiency in Familial Lipoprotein Lipase Deficiency
Familial Lipoprotein Lipase
194
3 major features of Familial Lipoprotein Lipase Deficiency
recurrent abdominal pain and pancreatitis, HSM, xanthomas
195
Treatment for Familial Lipoprotein Lipase Deficiency
Dietary fat restriction
196
Inheritance of Dysbetalipoproteinemia
AR
197
Gene in Dysbetalipoproteinemia
APOE2
198
3 major features of Dysbetalipoproteinemia
Early-onset cardiovasular and peripheral vascular disease, palmar xanthomas
199
Treatment for Dysbetalipoproteinemia
dietary fat and cholesterol restriction
200
Inheritance of Lecithin Cholesterol Acyltransferase Deficiency
AR
201
3 major features of Lecithin Cholesterol Acyltransferase Deficiency
Renal failure, corneal opacities, anemia
202
Inheritance of abetalipoproteinemia
AR
203
Gene in abetalipoprotienemia
MTP, APOB
204
3 major features of abetalipoproteinemia
fat malabsorption, growth failure, ataxia, retinitis pigmentoa, acanthyocyctic RBCs
205
Treatment for Abetalipoproteinemia
High dose vit E, MCT oil
206
Inheritance of Wilson's disease
AR
207
Gene in Wilson's Disease
ATP7B
208
3 major features of Wilson's disease
Liver disease, movement disorders, psych symptoms, Kayser-Fleischer rings
209
Treatment of Wilson's disease
Copper chelation, decrease copper intake
210
Inheritance and Menkes disease
XLR
211
Gene in Menkes Disease
ATP7A
212
3 major features of Menkes disease
loss of developmental milestones, sparse/brittle hair, lax skin, vascular tortuosity, temperature instability, hypotension, FTT
213
Treatment of Menkes disease
Copper histidine or copper chloride injections
214
Inheritance of hemochromatosis
AR
215
Gene for hemochromatosis
HFE
216
3 major features of hemochromatosis
arthritis, hepatomegaly, cardiomyopathy/arrhythmias, DM, hypogonadism
217
Treatment of hemochromatosis
weekly phlebotomy, chelation; liver transplant
218
Inheritance of Neurodegeneration with Brain Iron Accumulation
AR
219
3 major features of Neurodegeneration with Brain Iron Accumulation
Movement disorder, neuropsych disease, optic atrophy
220
Porphyrias- you have a whole deck on it
:)
221
Inheritance of PMM2-CDG
AR
222
3 major features of PMM2-CDG
DD/ID, SQ fat maldistribution, liver and kidney disease
223
Inheritance of MPI-CDG
AR
224
3 major features of MPI-CDG
FTT, liver dysfunction, coagulopathy, thrombosis
225
Treatment for MPI-CDG
Oral mannose supplementation
226
Lecithin Cholesterol Acyltransferase Deficiency AGAT distinguisher
no ataxia, dystonia, chorea
227
Lecithin Cholesterol Acyltransferase Deficiency GAMT distinguisher
self-injury
228
Lecithin Cholesterol Acyltransferase Deficiency SLC6A8 distinguisher
XLR and dysmorphic features
229
Inheritance of Lesch-Nyhan Syndrome
XLR
230
3 major features of Lesch-Nyhan Syndrome
ID, self-injury, hyperuricemia, kidney stones, renal failure, gout
231
Inheritance of Dopa Responsive Dystonia
AD
232
Gene in Dopa Responsive Dystonia
GTPCH1
233
3 major features of Dopa Responsive Dystonia
Dystonia, Parkinsonian features, diurnal fluctuation
234
Treatment for Dopa Responsive Dystonia
L-Dopa
235
Inheritance of Sepiapterin Reductase Deficiency
AR
236
3 major features of Sepiapterin Reductase deficiency
hypotonia, dystonia, autonomic dysfunction, oculogyric crises, diurnal fluctuation
237
Inheritance of Aromatic L-Amino Acid Decarboxylase Deficiency
AR
238
3 major features of Aromatic L-Amino Acid Decarboxylase Deficiency
Infantile ID, dystonia, autonomic instability, oculogyric crises
239
Inheritance of Monoamine Oxidase Deficiency
XLR
240
3 major features of Monoamine Oxidase Deficiency
ID, psychosis, impulsive/aggressive/antisocial
241
Inheritance of Glutathione Synthetase Deficiency
AR
242
3 major features of Glutathione Synthetase Deficiency
Hemolytic anemia, metabolic acidosis, neurodegeneration and infection
243
Inheritance of trimethylaminuria
AR
244
Major clinical feature of trimethylaminuria
Fishy odor in body fluids
