Genetic Disorders and Inborn Errors of Metabolism Flashcards
1
Q
number of specific number nucleotide copies within a gene increases
A
unstable repeat sequences
2
Q
Both members of a chromosome or gene pair are inherited from same parent
A
Uniparental disomy
3
Q
translocation
A
transfer of chromosomal material from one chromosome to another
4
Q
Genomic imprinting
A
gene defect is expressed solely based on the sex of the parent
5
Q
Angleman Syndrome
A
mothers abnormal 11q region on chromosome 15
6
Q
Prader-willi
A
Fathers abnormal 11q region on chromosome 15
7
Q
Intrinsically abnormal process forms abnormal tissue
A
malformation
8
Q
Mechanical forces exerted on normal tissue result in abnormal tissue
A
Deformation
9
Q
normal tissue becomes abnormal after being subjected to destructive forces
A
Disruption
10
Q
Syndrome
A
collection of seemingly unrelated abnormal features occur in a familiar pattern
11
Q
Triple marker for down syndrome
A
- low AFP
- low unconjugated estriol
- high Beta-HCG
12
Q
triple marker for trisomy 18
A
low: AFP, unconjugated estriol, Beta-HCG
13
Q
when can you do Chorionic villus sampling
A
10-13 weeks
14
Q
when can you collect amniocentesis
A
16-18 weeks
15
Q
what chromosome is Marfan found on? protein defect? inheritance?
A
15: fibrillin
Autosomal dominant
16
Q
Clinical features of Marfan
A
- tall stature with elongated extremities and long fingers
- decreased upper to lower segment ratio
- upward lens subluxation
- aortic root dilation ( sudden death)
17
Q
how is Marfan diagnosed
A
clinical however similar to homocystinuria
18
Q
what increases the risk of aortic dissection and decreases risk
A
- hypertension and chest trauma
- beta-blocker and avoid contact sports
19
Q
Clinical features of Prader-Willi
A
- Almond-shaped eyes
- fishlike mouth
- FTT first year, hyperphagia later in childhood
- short
- hypogonadism
- hypotonia
- mental retardation
20
Q
diagnosis for Prader-willi and Angleman
A
FISH
21
Q
childhood complication of Prader willi
A
obstructive sleep apnea
22
Q
adulthood complication of Prader-Willi
A
- cardiac disease
- type 2 diabetes mellitus
23
Q
“happy puppet” syndrome
A
Angelman syndrome
24
Q
clinical features of Angelman syndrome
A
- jerky arm movements
- ataxia
- paroxysms of inappropriate laughter
- mental retardation ( severe)
25
Chromosome impacted in Noonan syndrome
chromosome 12
26
clinical features for Noonan
- short stature
- shield chest
- short webbed neck
- low hairline
- right sided heart lesions ( pulmonary valve stenosis)
27
CATCH-22
DiGeroge syndrome and Velocardiofacial syndrome
- Cardiac anomaly
- Abnormal facies
- thymic hypoplasia
- cleft palate
- hypocalcemia
28
complications of DiGeroge
- seizures due to hypocalcemia
| - infections
29
Ehlers-Danlos syndrome? inheritance
- defective type V collagen
| - autosomal dominant
30
Hyper extendable joints, fragile skin, tissue paper-thin scars, mitral valve prolapse
Ehlers-Danlos syndrome
31
Osteogenesis imperfecta
production of abnormal type 1 collagen
32
clinical features of osteogenesis imperfecta
- blue sclerae
- fragile bones
- yellow or gray-blue teeth
- easy bruisability
33
complications for osteogenesis imperfecta
- early conductive hearing loss and skeletal deformaties
34
VACTERL (VATER) association
- Vertebral defects
- Anal atresia
- Cardiac anomalies
- TE tracheoesophageal fistula
- Renal
- Limb defects
35
CHARGE association
- Colobomas
- Atresia of nasal choanae
- retardation
- Genital anomalies
- Ear anomalies
36
Colobams
absence or defect of ocular tissue
37
"cocktail party" personality ? chromosome?
Williams syndrome
| - deletion on chromosome 7
38
Clinical features of Williams syndrome
- Elfin facies
- Mental retardation and loquacious personality
- Supravalvular aortic stenosis
- Idiopathic hypercalcemia
- connective tissue abnormalities
39
Elfin facies
- short palpebral fissures
- flat nasal bridge
- round cheeks
40
- Small for gestational age and FTT
- single eyebrow (synophrys)
- microcephaly
- infantile hypertonia
- mental retardation
- small hands and feet
- cardiac defects
- behavioral
Cornelia de Lange (Brachmann-de Lange)
41
Short stature, skeletal asymmetry and normal head circumference
Russell-Silver Syndrome
42
Clinical features of Russell-Silver syndrome
- small for gestational age
- small triangular face
- Cafe-au-lait spots
- excessive sweating
43
Clinical feature of Pierre Robin syndrome
- micrognathia
| - cleft lip and palate
44
Complications for Pierre Robin syndrome
- recurrent Otits Media
| - Upper airway obstruction
45
Partial deletion of short arm of chromosome 5 ? clinical feature?
Cri du chat syndrome
| - cat cry
46
Second most common trisomy syndrome ? more common gender?
Trisomy 18
| - female
47
Clinical features of Trisomy 18
- scissoring of lower extremities
- delicate, small facial features
- clenched hands with overlapping digits
- rocker bottom feet
48
clinical features of trisomy 13
- holoprosencephaly
- severe mental retardation
- microphthalmia
- cleft lip and palate
49
cardiac defect and limb defect in turner
- Left sided : coarctation of aorta
| - swelling of dorsum of hands and feet
50
Most common inherited cause of mental retardation? defect?
Fragile X syndrome - CGG repeats
51
- mild to severe retardation, large eas, large testes
Fragile X syndrome
52
Most common cause of male hypogonadism and infertility ? genotype?
Klinefelter syndrome
| - XXY
53
Proximal long bone abnormalities
Rhizomelia
54
Medial long bone abnormalities
Mesomelia
55
Distal abnormalities
Acromelia
56
Abnormalities of spine with or without limb abnormalities
Sondylodysplasias
57
Most common skeletal dysplasia
Achondroplasia
58
complications of achonroplasia
- foramen magnum stenosis --> hydrocephalus or cord compression
- obstructive sleep apnea
- orthopedic problems
59
clinical features of achondroplasia
- trident-shaped hands
- rhizomelic limb shortening
- lumbar kyphosis in infancy
- lumbar lordosis in later childhood
- recurrent otitis media with conductive hearing loss
60
cause of Potter syndrome
- severe oligohydramnios
61
Most common teratogen
fetal alcohol syndrome
62
Table 5-2
page 130
63
Most common congenital anomalies of central nervous system
Neural tube defect
64
Initial Laboratory evaluation for inborn error of metabolism
- metabolic acidosis
| - elevated serum ammonia
65
what increases ammonia excretion
- Sodium benzoate
| - sodium phenylacetate
66
Homocystinuria? inheritance
- Cystathionine synthase deficiency
| - autosomal recessive
67
difference between Homocystinuria and Marfanoid body
- Marfanoid body habitus without arachnodactyly
| - Homocystinuria downward lens subluxation
68
Clinical features of Homocystinuria
- hypercoaguable state
- Cardiovascular abnormalities
- scoliosis
- developmental delay
69
Diagnosis for Homocystinuria
Increased methionine
70
Management of Homocystinuria
- Methionine-restricted diet
| - aspirin
71
Premature infants who receive high-protein diets
transient tyrosinemia of the newborn
72
Diagnosis for transient tyrosinemia of the newborn
-elevated serum tyrosine and phenylalanine levels
73
Management of transient tyrosinemia of the newborn
vitamin C
74
prognosis for transient tyrosinemia of the newborn
self-limited disease
75
what is cystinuria
defect in renal reabsorption of cystine, lysine, arginine, and ornithine that leads to renal stones
76
Hartnup disease
defect in transport of neutral amino acids
77
what are ammonia levels in urea cycle defect
elevated ammonia greater than 200 muM
78
how is transient hyperammoniemia of the newborn treated
self-limited
79
Most common urea cycle defect? inheritance
Ornithine transcarbamylase deficiency
| - autosomal recessive
80
What should be suspected in any newborn with hepatomegaly and hypoglycemia
galactosemia
81
what is galactosemia
galactose-1-phosphate uridyltransferase deficiency
82
clinical features of galactosemia
- after feeding cow's milk or breast milk
- hepatomeglay
- cataracts (oil drop appearance)
- renal tubular acidosis
83
diagnosis for galactosemia
nonglucose-reducing substance in urine
84
managment for galactosemia
galactose-free diet
85
Prognosis for galactosemia
- normal intelligence if disorder is treated early
- all females have ovarian failure
- E. coli sepsis death
86
What is hereditary fructose intolerance
- fructose-1-phosphate aldolase B deficiency
87
2 characteristics of glycogen storage
organomegaly and metabolic acidosis
88
glucose-6-phosphatase deficiency
Von Gierke's disease
89
alpha- glucosidase deficiency
Pompe's disease (GSD type 2)
90
Von Gierke's disease have a high risk for what
hepatocellular carcinoma
91
Most common fatty acid oxidation disorder
Medium-chain acyl-CoA dehydrogenase
92
characteristics of fatty acid oxidation defect
- nonketotic hypoglycemia
- hyperammonemia
- myopathy
- cardiomyopathy
93
Common disease has atypical presentation or if disease involves 3 or more organ system
- mitochondiral disorder
94
- mitochondiral encephalopathy
- lactic acidosis
- strokelike episodes
MELAS
95
- ophthalmoplegia
- pigmentary degeneration
- degeneration of retina
- hearing loss
- heart block
- nuerolgic degeneration
Kearns-Sayre syndrmoe
96
how is diagnosis of mitochondrial disorder made
tissue biopsy revealing abnormal mitochondria
97
Tay Sachs? inheritance?
hexosaminidase A deficiency
| - AR
98
infantile onset of tay sachs
- hyperacusis
- macrocephaly
- cherry red macula
- severe developmental delay
99
Juvenile or adult onset tay sachs
cherry red macula absent
100
prognosis for tay sachs
infantile: untreatable
juvenile: poor prognosis
101
Gaucher's disease
glucocerebrosidease deficiency
102
what is the most common gangliosidosis
Gaucher's disease
103
common feature for Gaucher's disease
Erlenmeyer flask-shape to the distal femur
104
Niemann-Pick
sphingomyelinase deficiency
105
Metachromatic leukodystrophy caused by
arylsulfatase A deficiency
