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Pediatrics Rotation > Genetic Disorders and Inborn Errors of Metabolism > Flashcards

Genetic Disorders and Inborn Errors of Metabolism Flashcards

1
Q

number of specific number nucleotide copies within a gene increases

A

unstable repeat sequences

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2
Q

Both members of a chromosome or gene pair are inherited from same parent

A

Uniparental disomy

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3
Q

translocation

A

transfer of chromosomal material from one chromosome to another

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4
Q

Genomic imprinting

A

gene defect is expressed solely based on the sex of the parent

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5
Q

Angleman Syndrome

A

mothers abnormal 11q region on chromosome 15

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6
Q

Prader-willi

A

Fathers abnormal 11q region on chromosome 15

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7
Q

Intrinsically abnormal process forms abnormal tissue

A

malformation

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8
Q

Mechanical forces exerted on normal tissue result in abnormal tissue

A

Deformation

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9
Q

normal tissue becomes abnormal after being subjected to destructive forces

A

Disruption

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10
Q

Syndrome

A

collection of seemingly unrelated abnormal features occur in a familiar pattern

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11
Q

Triple marker for down syndrome

A
  • low AFP
  • low unconjugated estriol
  • high Beta-HCG
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12
Q

triple marker for trisomy 18

A

low: AFP, unconjugated estriol, Beta-HCG

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13
Q

when can you do Chorionic villus sampling

A

10-13 weeks

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14
Q

when can you collect amniocentesis

A

16-18 weeks

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15
Q

what chromosome is Marfan found on? protein defect? inheritance?

A

15: fibrillin

Autosomal dominant

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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)
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17
Q

how is Marfan diagnosed

A

clinical however similar to homocystinuria

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18
Q

what increases the risk of aortic dissection and decreases risk

A
  • hypertension and chest trauma

- beta-blocker and avoid contact sports

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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
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20
Q

diagnosis for Prader-willi and Angleman

A

FISH

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21
Q

childhood complication of Prader willi

A

obstructive sleep apnea

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22
Q

adulthood complication of Prader-Willi

A
  • cardiac disease

- type 2 diabetes mellitus

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23
Q

“happy puppet” syndrome

A

Angelman syndrome

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24
Q

clinical features of Angelman syndrome

A
  • jerky arm movements
  • ataxia
  • paroxysms of inappropriate laughter
  • mental retardation ( severe)
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25
Q

Chromosome impacted in Noonan syndrome

A

chromosome 12

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26
Q

clinical features for Noonan

A
  • short stature
  • shield chest
  • short webbed neck
  • low hairline
  • right sided heart lesions ( pulmonary valve stenosis)
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27
Q

CATCH-22

A

DiGeroge syndrome and Velocardiofacial syndrome

  • Cardiac anomaly
  • Abnormal facies
  • thymic hypoplasia
  • cleft palate
  • hypocalcemia
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28
Q

complications of DiGeroge

A
  • seizures due to hypocalcemia

- infections

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29
Q

Ehlers-Danlos syndrome? inheritance

A
  • defective type V collagen

- autosomal dominant

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30
Q

Hyper extendable joints, fragile skin, tissue paper-thin scars, mitral valve prolapse

A

Ehlers-Danlos syndrome

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31
Q

Osteogenesis imperfecta

A

production of abnormal type 1 collagen

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32
Q

clinical features of osteogenesis imperfecta

A
  • blue sclerae
  • fragile bones
  • yellow or gray-blue teeth
  • easy bruisability
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33
Q

complications for osteogenesis imperfecta

A
  • early conductive hearing loss and skeletal deformaties
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34
Q

VACTERL (VATER) association

A
  • Vertebral defects
  • Anal atresia
  • Cardiac anomalies
  • TE tracheoesophageal fistula
  • Renal
  • Limb defects
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35
Q

CHARGE association

A
  • Colobomas
  • Atresia of nasal choanae
  • retardation
  • Genital anomalies
  • Ear anomalies
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36
Q

Colobams

A

absence or defect of ocular tissue

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37
Q

“cocktail party” personality ? chromosome?

A

Williams syndrome

- deletion on chromosome 7

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38
Q

Clinical features of Williams syndrome

A
  • Elfin facies
  • Mental retardation and loquacious personality
  • Supravalvular aortic stenosis
  • Idiopathic hypercalcemia
  • connective tissue abnormalities
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39
Q

Elfin facies

A
  • short palpebral fissures
  • flat nasal bridge
  • round cheeks
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40
Q
  • Small for gestational age and FTT
  • single eyebrow (synophrys)
  • microcephaly
  • infantile hypertonia
  • mental retardation
  • small hands and feet
  • cardiac defects
  • behavioral
A

Cornelia de Lange (Brachmann-de Lange)

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41
Q

Short stature, skeletal asymmetry and normal head circumference

A

Russell-Silver Syndrome

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42
Q

Clinical features of Russell-Silver syndrome

A
  • small for gestational age
  • small triangular face
  • Cafe-au-lait spots
  • excessive sweating
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43
Q

Clinical feature of Pierre Robin syndrome

A
  • micrognathia

- cleft lip and palate

44
Q

Complications for Pierre Robin syndrome

A
  • recurrent Otits Media

- Upper airway obstruction

45
Q

Partial deletion of short arm of chromosome 5 ? clinical feature?

A

Cri du chat syndrome

- cat cry

46
Q

Second most common trisomy syndrome ? more common gender?

A

Trisomy 18

- female

47
Q

Clinical features of Trisomy 18

A
  • scissoring of lower extremities
  • delicate, small facial features
  • clenched hands with overlapping digits
  • rocker bottom feet
48
Q

clinical features of trisomy 13

A
  • holoprosencephaly
  • severe mental retardation
  • microphthalmia
  • cleft lip and palate
49
Q

cardiac defect and limb defect in turner

A
  • Left sided : coarctation of aorta

- swelling of dorsum of hands and feet

50
Q

Most common inherited cause of mental retardation? defect?

A

Fragile X syndrome - CGG repeats

51
Q
  • mild to severe retardation, large eas, large testes
A

Fragile X syndrome

52
Q

Most common cause of male hypogonadism and infertility ? genotype?

A

Klinefelter syndrome

- XXY

53
Q

Proximal long bone abnormalities

A

Rhizomelia

54
Q

Medial long bone abnormalities

A

Mesomelia

55
Q

Distal abnormalities

A

Acromelia

56
Q

Abnormalities of spine with or without limb abnormalities

A

Sondylodysplasias

57
Q

Most common skeletal dysplasia

A

Achondroplasia

58
Q

complications of achonroplasia

A
  • foramen magnum stenosis –> hydrocephalus or cord compression
  • obstructive sleep apnea
  • orthopedic problems
59
Q

clinical features of achondroplasia

A
  • trident-shaped hands
  • rhizomelic limb shortening
  • lumbar kyphosis in infancy
  • lumbar lordosis in later childhood
  • recurrent otitis media with conductive hearing loss
60
Q

cause of Potter syndrome

A
  • severe oligohydramnios
61
Q

Most common teratogen

A

fetal alcohol syndrome

62
Q

Table 5-2

A

page 130

63
Q

Most common congenital anomalies of central nervous system

A

Neural tube defect

64
Q

Initial Laboratory evaluation for inborn error of metabolism

A
  • metabolic acidosis

- elevated serum ammonia

65
Q

what increases ammonia excretion

A
  • Sodium benzoate

- sodium phenylacetate

66
Q

Homocystinuria? inheritance

A
  • Cystathionine synthase deficiency

- autosomal recessive

67
Q

difference between Homocystinuria and Marfanoid body

A
  • Marfanoid body habitus without arachnodactyly

- Homocystinuria downward lens subluxation

68
Q

Clinical features of Homocystinuria

A
  • hypercoaguable state
  • Cardiovascular abnormalities
  • scoliosis
  • developmental delay
69
Q

Diagnosis for Homocystinuria

A

Increased methionine

70
Q

Management of Homocystinuria

A
  • Methionine-restricted diet

- aspirin

71
Q

Premature infants who receive high-protein diets

A

transient tyrosinemia of the newborn

72
Q

Diagnosis for transient tyrosinemia of the newborn

A

-elevated serum tyrosine and phenylalanine levels

73
Q

Management of transient tyrosinemia of the newborn

A

vitamin C

74
Q

prognosis for transient tyrosinemia of the newborn

A

self-limited disease

75
Q

what is cystinuria

A

defect in renal reabsorption of cystine, lysine, arginine, and ornithine that leads to renal stones

76
Q

Hartnup disease

A

defect in transport of neutral amino acids

77
Q

what are ammonia levels in urea cycle defect

A

elevated ammonia greater than 200 muM

78
Q

how is transient hyperammoniemia of the newborn treated

A

self-limited

79
Q

Most common urea cycle defect? inheritance

A

Ornithine transcarbamylase deficiency

- autosomal recessive

80
Q

What should be suspected in any newborn with hepatomegaly and hypoglycemia

A

galactosemia

81
Q

what is galactosemia

A

galactose-1-phosphate uridyltransferase deficiency

82
Q

clinical features of galactosemia

A
  • after feeding cow’s milk or breast milk
  • hepatomeglay
  • cataracts (oil drop appearance)
  • renal tubular acidosis
83
Q

diagnosis for galactosemia

A

nonglucose-reducing substance in urine

84
Q

managment for galactosemia

A

galactose-free diet

85
Q

Prognosis for galactosemia

A
  • normal intelligence if disorder is treated early
  • all females have ovarian failure
  • E. coli sepsis death
86
Q

What is hereditary fructose intolerance

A
  • fructose-1-phosphate aldolase B deficiency
87
Q

2 characteristics of glycogen storage

A

organomegaly and metabolic acidosis

88
Q

glucose-6-phosphatase deficiency

A

Von Gierke’s disease

89
Q

alpha- glucosidase deficiency

A

Pompe’s disease (GSD type 2)

90
Q

Von Gierke’s disease have a high risk for what

A

hepatocellular carcinoma

91
Q

Most common fatty acid oxidation disorder

A

Medium-chain acyl-CoA dehydrogenase

92
Q

characteristics of fatty acid oxidation defect

A
  • nonketotic hypoglycemia
  • hyperammonemia
  • myopathy
  • cardiomyopathy
93
Q

Common disease has atypical presentation or if disease involves 3 or more organ system

A
  • mitochondiral disorder
94
Q
  • mitochondiral encephalopathy
  • lactic acidosis
  • strokelike episodes
A

MELAS

95
Q
  • ophthalmoplegia
  • pigmentary degeneration
  • degeneration of retina
  • hearing loss
  • heart block
  • nuerolgic degeneration
A

Kearns-Sayre syndrmoe

96
Q

how is diagnosis of mitochondrial disorder made

A

tissue biopsy revealing abnormal mitochondria

97
Q

Tay Sachs? inheritance?

A

hexosaminidase A deficiency

- AR

98
Q

infantile onset of tay sachs

A
  • hyperacusis
  • macrocephaly
  • cherry red macula
  • severe developmental delay
99
Q

Juvenile or adult onset tay sachs

A

cherry red macula absent

100
Q

prognosis for tay sachs

A

infantile: untreatable
juvenile: poor prognosis

101
Q

Gaucher’s disease

A

glucocerebrosidease deficiency

102
Q

what is the most common gangliosidosis

A

Gaucher’s disease

103
Q

common feature for Gaucher’s disease

A

Erlenmeyer flask-shape to the distal femur

104
Q

Niemann-Pick

A

sphingomyelinase deficiency

105
Q

Metachromatic leukodystrophy caused by

A

arylsulfatase A deficiency

Pediatrics Rotation (19 decks)

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