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Flashcards in BRS- Metabolism Deck (116):
1

____ diseases are only seen in males.
____ are more severe in males.

XR- only males
XD- more severe in males

2

Gene pair inherited entirely from the same parent is called ____?

uniparental disomy

3

Gene defect expressed solely based on the sex of the parent passing on the defective gene

genomic imprinting

4

Chromosome deleted in both Prader Willi and Angelmans

chromosome 15, 11q

5

Three abnormalities of morphogenesis

-intrinsic abnormality ?
-mechanical forces?
-destructive forces?

-intrinsic: malformation
-mechanical: deformation
-destructive: disruption

6

Two causes of low AFP

-trisomy
-overestimated GA

7

Causes of high AFP:

-NTD
-MFG
-underestimated GA
-abdominal wall defect
-edema/skin abnormality

8

Triple mark screen levels in Down Syndrome?

-low AFP, estriol
-High hCG

9

At what time in pregnancy are CVS and Amniocentesis performed?

-CVS: 10-13 weeks
-Amniocentesis: 16-18 weeks

10

Marfans:
-inheritance pattern
-chromosome
-gene

-AD
-chromosome 15
-fibrillin

11

Marfans:
skeletal findings

-tall
-long fingers
-decreased U/L segment ratio

12

Marfans:
most common cardiac and ocular findings

-upward lens subluxation
-aortic root dilatation

13

Management of Marfans:

-Bbers + sport avoidance to prevent aortic dissection
-endocarditis prophylaxis
-ophthalmic exams

14

Physical appearance of Prader Willis

-FTT --> short + obese
-fish mouth, almond eyes

15

Prader Willis Neuro effects

-retardation
-hypotonia
-learning/behavior disorder

16

GU abnormalities assc with Prader Willis

-small penis/testis
-hypogonadism
+/- cryptorchidism

17

Into late childhood/ adulthood, what complications are assc with Prader Willis?

-OSA
-CVD
-DM2

18

Angelman Syndrome neuro features

-jerky movements, ataxia
-inappropriate laughter
-mental retardation

19

Angelman Syndrome physical appearance

-small head/ big mouth
-blond hair/ blue eyes

20

Male version of Turners Syndrome? _____
Assc chromosome _____

Noonans
chromosome 12

21

Appearance of Noonans patient

-short, webbed neck
-shield chest
-low hairline
-hypertelorism

22

Two heart defects assc with Noonans

-right sided lesions
-pulm stenosis

23

Two disorders assc with chromosome 22q11

-DiGeorge
-velocardiofacial syndrome

24

What does CATCH 22 stand for?

-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