BRS- Metabolism Flashcards
(116 cards)
1
Q
____ diseases are only seen in males.
____ are more severe in males.
A
XR- only males
XD- more severe in males
2
Q
Gene pair inherited entirely from the same parent is called ____?
A
uniparental disomy
3
Q
Gene defect expressed solely based on the sex of the parent passing on the defective gene
A
genomic imprinting
4
Q
Chromosome deleted in both Prader Willi and Angelmans
A
chromosome 15, 11q
5
Q
Three abnormalities of morphogenesis
- intrinsic abnormality ?
- mechanical forces?
- destructive forces?
A
- intrinsic: malformation
- mechanical: deformation
- destructive: disruption
6
Q
Two causes of low AFP
A
- trisomy
- overestimated GA
7
Q
Causes of high AFP:
A
- NTD
- MFG
- underestimated GA
- abdominal wall defect
- edema/skin abnormality
8
Q
Triple mark screen levels in Down Syndrome?
A
- low AFP, estriol
- High hCG
9
Q
At what time in pregnancy are CVS and Amniocentesis performed?
A
- CVS: 10-13 weeks
- Amniocentesis: 16-18 weeks
10
Q
Marfans:
- inheritance pattern
- chromosome
- gene
A
- AD
- chromosome 15
- fibrillin
11
Q
Marfans:
skeletal findings
A
- tall
- long fingers
- decreased U/L segment ratio
12
Q
Marfans:
most common cardiac and ocular findings
A
- upward lens subluxation
- aortic root dilatation
13
Q
Management of Marfans:
A
- Bbers + sport avoidance to prevent aortic dissection
- endocarditis prophylaxis
- ophthalmic exams
14
Q
Physical appearance of Prader Willis
A
- FTT –> short + obese
- fish mouth, almond eyes
15
Q
Prader Willis Neuro effects
A
- retardation
- hypotonia
- learning/behavior disorder
16
Q
GU abnormalities assc with Prader Willis
A
-small penis/testis
-hypogonadism
+/- cryptorchidism
17
Q
Into late childhood/ adulthood, what complications are assc with Prader Willis?
A
- OSA
- CVD
- DM2
18
Q
Angelman Syndrome neuro features
A
- jerky movements, ataxia
- inappropriate laughter
- mental retardation
19
Q
Angelman Syndrome physical appearance
A
- small head/ big mouth
- blond hair/ blue eyes
20
Q
Male version of Turners Syndrome? _____
Assc chromosome _____
A
Noonans
chromosome 12
21
Q
Appearance of Noonans patient
A
- short, webbed neck
- shield chest
- low hairline
- hypertelorism
22
Q
Two heart defects assc with Noonans
A
- right sided lesions
- pulm stenosis
23
Q
Two disorders assc with chromosome 22q11
A
- DiGeorge
- velocardiofacial syndrome
24
Q
What does CATCH 22 stand for?
A
- cardiac anomaly
- abnormal face
- thymic hypoplasia
- cleft palate
- hypocalcemia
- 22 chromosome
25
Describe thymic abnormalities seen in DiGeorge
-no thymus/parathyroid=
| immunodeficiency, hypocalcemia
26
Complication assc with hypocalcemia
- tetany
| - seziures
27
Cardiac effect assc with velocardiofacial syndrome
- VSD
| - right sided arch
28
Neuro findings in velocardiofacial syndrome
- hypotonia
| - perseverative behavior
29
Collagen type assc with Ehlers Danlos? OI?
- ED: type V
| - OI: type I
30
ED:
| skin & joint findings
- skin and joint hypermobility
| - tissue paper thin scarring
31
CV and GI findings in ED
- rectal prolapse
- MVP
- aortic dilatation
- fragile vessels
32
Osteogenesis I:
- describe eyes/teeth/ears
- describe knee position
- blue eyes, gray blue teeth, hearing loss
| - genu valgum
33
List the VACTERL assc
- vertebral defects
- anal atresia
- cardiac anomalies (VSD)
- TE fistula
- renal defects
- limb defects
34
List the CHARGE assc
- colobomas
- heart defects
- atresia of the nasal choanae
- retardation
- genital anomalies
- ear anomalies
35
Williams syndrome:
chromosome
gene
inheritance pattern
- chromosome 7
- elastin
- AD
36
Williams syndrome
- appearance
- neuro
- elfin facies
| - cocktail party personality, retardation
37
Williams syndrome
| cardiac and endocrine findings
- supravalvular AS
| - idiopathic hypercalcemia
38
Cornelia de Lange Syndrome
| -appearance
- single eyebrow
- short stature
- microcephaly
39
Synophrys describes
single eyebrow
40
Cornelia de lange neuro sx
- MR
| - hypotonia
41
Russel Silver Syndrome:
| appearance
- short
- assymetric skeleton
- triangle face
- café au lait spots
42
Pierre Robinson main symptoms
- micrognathia
- cleft lip and palate
- tiny airways= otitis and URI
43
Cri du Chat:
- chromosome
- appearance
- neuro
- short arm chromosome 5
- small head, hypertelorism
- cat like cry, MR
44
What is the incidence of Downs Syndrome
1:660
45
Second most common trisomy + predominant sex
trisomy 18; females
46
Three features obvious in newborn with trisomy 18
- scissoring
- rockerbottom feet
- clenched hands w/ overlapping digits
47
Trisomy 18 is assc with _______ defects of the head
midline
| holoprosencephaly, cleft lip palate, microphthalmia/single eye
48
Life expectancy in trisomy 13,18
18: 1 year
13: 1 month
49
Cause of Turners Syndrome + incidence
- single X
| - 1:2k
50
Key finding assc with Turners
- ovarian dysgenesis/ pubertal delay
| - aortic coarctation
51
Four facial features assc with downs
- brachycephaly
- epicanthal folds
- brushfield spots
- protruding tongue
52
MSK features of downs
- wide space between first and second toes
- single palmar crease
- clinodactyly
53
Four GI features of Downs
- duodenal atresia
- omphalocele
- hirschsprungs
- pyloric stenosis
- celiacs
54
Most common cardiac defects seen in downs
endocardial cushion defects
55
Two diseases seen later in life assc with downs
- ALL
| - ALZ
56
Sensory defects assc with Downs
-hearing/vision defects
57
Endo defect assc with Downs
-hypothyroidism
58
Most common inherited cause of retardation?
Fragile X, CGG repeats
59
What is large in fragile X?
ears
| testes
60
Most common cause male hypogonadism
Klinefelters, XXY
61
Klinefelters features
- tall
- hypogonad
- gynecomastia
- antisocial behavior
62
Define rhiso/meso/acromelia
- rhiso: proximal long bone short (humerus, femur)
- meso: medial (ulna, tibia)
- acro: distal (hands, feet)
63
Most common skeletal dysplasia
- achdondropalsia
- AD
- FGFR3
- paternal age
64
Craniofacial abnormalities in achondroplasia
- megalencephaly
- foramen magnum stenosis
- risk cord compression
- hearing loss (conductive)
65
Skeletal findings in achondroplasia
- rhizomelia
- lumbar kyphosis --> lordosis
- tident hands
66
Fetal alcohol syndrome:
- FTT
- smooth philtrum
- MR
- cardiac defects
67
Folic acid dosage to prevent NTD
-4-8g/day
68
Risk of CHD in general population
-1%
69
Fetal phenytoin syndrome
- MR
- cardiac
- nail, digit, facial abnormalities
70
Drug assc with phocomelia
thalidomide
71
Signs of IEM:
- seizures
- developmental delay/FTT
- vomiting
72
Family history factors related to IEM
- consanguinity
- neonatal deaths
- MR
- unusual dietary preferences
73
Labs for IEM
- metabolic acidosis
| - hyperammonemia
74
Elevated ammonia suggests what disorders
| Elevated urine reducing substances suggest
Ammonia: urea cycle
| Urine reducing substance: galactosemia
75
Homocystinuria cause
Cystathionine synthase deficiency
76
Homocystinura = Marfans except
Hypercoagulable state
No aortic dilatation
Increased methionine
+urinary cyanide nitroprusside
77
Treatment for homocystinuria
- met restricted diet
| - aspirin
78
Transient tyrosinemia also involves elevated ______.
It lasts ______.
________ decreases tyrosine levels.
Phenylalanine
1 month
Vitamin C eliminates
79
Cystinuria is failed reabsorption of what amino acids?
COLA
- cystine
- ornithine
- lysine
- arginine
80
Hartnups Disease:
Cause
Symptoms
Failure of transport of neutral amino acids
| Rash, MR, ataxia
81
Transient hyperammonemia lasts how long?
| Symptoms?
- 24-48 hours of life
| - alkalosis --> coma
82
MC urea cycle deficit
| Inheritance pattern
Ornithine transcarbamylase
| XR
83
Ornithine Transcarbamylase Def labs (3)
High ornithine, orotic acid
| Low citrulline
84
Cause of Galactosemia + two key symptoms
G1UDPiciency
Hepatomegaly
Hypoglycemia
After newborn first feeds
85
Renal/ocular findings assc with galactosemia
RTA
| Cataracts with oil droplet appearance
86
Finding in females with galactosemia
Ovarian failure
87
Cause of death in galactosemia patients
E. coli sepsis
88
Deficiency assc with fructose intolerance
F1P aldolase B
89
Glycogen storage disease two key findings
Organometallic
| Metabolic acidosis
90
Von Gierke cause
| Pompes cause
VG/ I: G6P
| Pompes/ II: a-glucosidase
91
Which Glycogen Storage Disease is assc with hepatocellular carcinoma
Von Gierke
92
Classic lab findings assc with fatty acid oxidation defects
Nonketotic hypoglycemia
| Hyperammonemia
93
Two clinical outcomes assc with fatty acid oxidation defects
Cardiomyopathy
| Myopathy
94
Most common fatty acid oxidation disorder
Medium chain acyl CoA dehydrogenase
95
When should mitochondrial disorders be suspected
- atypical presentation
| - 3+ organ systems involved
96
What does MELAS stand for?
Mitochondrial encephalopathy lactic acidosis strokes
97
How to diagnose mitochondrial disorders
Tissue samples
98
Tay Sachs + Guachers are what type of disorders
Lysosomal storage
99
Gauchers deficiency
Tay Sachs deficiency
Neimann-Pick deficiency
Metachromatic leukodystrophy deficiency
Tay Sachs: hexosaminadase A
Gauchers: glucocerebridase
Neimann Pick: sphingomyelinase
Metachromatic leukodystrophy: arylsufatase A
100
Gauchers & Tay Sachs & Neiman Pick:
Common feature
Distinguishing feature
All have cherry red macula
Gauchers & Neiman Pick: HSM
Neiman Pick: ataxia
101
Key feature of juvenile onset Tay Sachs
Cherry red macula is absent
102
Key finding in infantile Tay Sachs
Hyperacusis
103
MSK finding assc with gauchers
Erlenmyer flask shaped distal femur
104
Metachromatic Leukodystrophy:
| Life expectancy
10-20 years
105
Thickened cranium
J shaped sella turcica
Beak life vertebrate
Called?
Dysostosis multiplex --> characteristic of mucopolysaccharidoses
106
What are the four mucopolysaccharidoses
Hunter
Hurler
Sanfilippo
Morquio
107
A-iduronidase deficiency is assc with what mucopolysaccharidosis?
Hurler
108
Hurler key symptoms
Corneal clouding
| Coarse facial features
109
How to diagnose hunters and hurlers syndrome
Heparin and dermatan sulfate in the urine
110
Inheritance hunters vs hurlers
Hunters: XR
Hurlers: AR
111
How is morquio different from other mucopolysaccharidoses?
No Mental retardation
--> scoliosis & cor pulmonale
112
Porphyria pattern
Episodic and participated
113
Porphyria clinical presentation
- burgundy colored urine
- colicky abdominal pain
- autonomic instability
114
How to diagnose porphyrias
Increased serum and urine porphobilinogen
115
Wilson's disease
Inheritance pattern
+ symptoms
AR
- Kayser Fleischer rings
- Hepatic dysfxn
- Neuro changes
116
Menkes kinky hair syndrome
- Inheritance pattern
- abnormal lab
- PE findings
- XR
- low copper, ceruloplasmin
- seizures, pale kinky friable hair
