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NICU > IEM/genetics > Flashcards

IEM/genetics Flashcards

1
Q

In addition to MSUD, what two other organic acidemias are associated with branched chain AA’s?

A

Isovaleric acidemia (sweaty feet and a/w leucine deficiency) and Propionic acidemia (requires biotin as a cofactor and a/w isoleucine deficiency)

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2
Q

What has low orotic acid in urine?

A

CPS deficiency

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3
Q

What has high arginine and what is a systemic problem?

A

Arginase deficiency with spastic diplegia

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4
Q

What has very high plasma citrulline and what is a systemic problem?

A

Arginosuccinic acid synthetase deficiency with brittle hair

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5
Q

What is the one X-linked recessive disease that is frequently found in females?

A

OTC deficiency

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6
Q

Smith-Lemli-Optiz

  • how is it inherited?
  • how does it present?
  • what is elevated?
A
  • autosomal recessive
  • cataracts, cleft palate, anteverted nostrils, 2,3 toe syndactyly, congenital pyloric stenosis, Hirschprung’s, undervirilization in males
  • 7-dehydrocholesterol is elevated
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7
Q

Which ichthyosis are autosomal recessive

A

harlequin, CIE, and lamellar

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8
Q

Which ichthyosis are autosomal dominant

A

Epidermolytic hyperkeratosis and ichthyosis vulgaris

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9
Q

Achondroplasia

  • how is inherited
  • but actually inherited
  • what is gene is a problem
  • what are physical findings
A
  • auto dominant
  • but most are sporadic
  • mutation is in FGFR3
  • narrow foramen magnum (at risk for hydrocephalus), trident hand, lordosis, kyphosis, rhizomelia (and mesomelia)
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10
Q

Treacher-Collins

- physical findings

A

everything is small:

micrognathia, auricular deformities, conductive hearing loss, choanal atresia, colobomas

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11
Q

Homocystinuria

  • what conversion cannot happen?
  • what metabolites are elevated?
  • physical findings?
  • cardiac defects?
  • Tx? What conversion happens with treatment?
A
  • homocysteine cannot be converted into cystathione
  • elevated homocysteine and methionine
  • lens subluxation downward, osteoporosis, long fingers, pectus excavatum or carinatum, mental retardation
  • thrombosis, medial degeneration of aorta and carotids
  • Tx: B6, betaine - converts homocysteine back into methionine
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12
Q

Prader-Willi

  • chromosome affected?
  • what is the most common genetic mechanism?
  • features during pregnancy?
  • symptoms?
  • diagnosis?
A
  • chromosome 15
  • deletion of paternal genes (uniparental disomy is second cause)
  • during pregnancy: polyhydramnios and breech presentation
  • bitemporal wasting, severe hypotonia, difficulty feeding, small mouth, almond shaped eyes, micropenis, undescended testes
  • methylation study
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13
Q

What diseases are inherited by microdeletions?

A

DiGeorge, Prader-Willi, Angelman, NF, Williams, Rubenstein-Taybi, Wolf-Hirschhorn

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14
Q

What 3 diseases are inherited by problems of imprinting?

A

Angelman, Prader-Willi, and Beckwith-Weideman

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15
Q

What diseases have trinucleotide repeats?

A

Huntington’s (CAG), myotonic dystrophy (CTG), fragile X (CGG)

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16
Q

What is deficient in Menkes disease?
What are symptoms?
How is it inherited?

A
  • copper transport
  • brittle steely hair, sagging lips, abnormal bone and skin
  • X-linked recessive
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17
Q

What are most T21 due to?

  • What is not common?
  • What is even less common?
A

95% from nondysjunction (47 chromosomes)

  • 4% from unbalanced translocation (14-21); 1/4 of these are due to familial translocation
  • 1% due to mosaicism and have milder disease
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18
Q

Three problems in Stickler syndrome

A

Pierre-Robin sequence, cataracts, hearing loss

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19
Q

Lowe’s

  • how is inherited
  • aka
  • whats the problem?
  • increased maternal ___?
A

The boy OCRR is beLOWE the bridge

  • X-linked recessive
  • oculocerebrorenal reproductive syndrome
  • affects enzymatic function of golgi
  • maternal AFP
20
Q

Bartter’s

A
  • hyponatremia, hypokalemia, hypercalciuria, metabolic alkalosis
  • think lose all their salts - become hypotensive, dehydrated, need to replace sodium and potassium
21
Q

von Gierke’s (type I glycogen storage disease)

  • enzyme deficiency?
  • three points
A
  • deficiency in glucose-6-phosphatase
  • high uric acid, high lactate, and liver failure

von gURICke’s

22
Q

Noonan’s three things?

A

dysplastic pulmonary valve
chylothorax
cryptorchidism

23
Q

What IEM should glucose NOT be given?

A

Pyruvate dehydrogenase

24
Q

Primary fuel for muscles?

A

fat

25
Q

Primary fuel for brain?

A

glucose, then ketones

26
Q

What are the three branched chain amino acids accumulated in MSUD?

  • What is pathognomonic for MSUD?
  • Which AA is particularly toxic to the brain?
A
  • Valine, leucine, isoleucine
  • Alloisoleucine
  • leucine
27
Q

Mothers deficient in what will have babies positive on NBS with MMA?

A

B12

28
Q

Gene problem with DiGeorge?

A

3 megabase deletion (~40 genes)

29
Q

Heart failure, myopathy and/or hepatomegaly?

A

fatty acid oxidation defect

30
Q

What enzyme is deficient in Pompe’s?

What lab value will be normal and what is elevated?

A
  • lysosomal alpha glucosidase

- glucose is fine! CPK will be v increased

31
Q

Dysmorphisms associated with Zellweger’s?

Labs?

A
  • cataracts, high forehead, flat orbital ridges, flat nasal bridge, ataxia, sensorineural hearing loss, seizures
  • VLCFA probs
  • mutated PEX
  • can result in hydrops
32
Q

Enzyme responsible for point mutation resulting in CF (and others)?

A

DNA polymerase

33
Q

Meckel-Gruber?

A

encephalocele and polydactyly

34
Q

cerebral and cerebellar atrophy, mildly elevated ammonia, metabolic acidosis

A

pyruvate dehydrogenase deficiency

35
Q

Which is not associated with AMA: trisomy 21, turner’s, klinefelter’s

A

turner’s (absent chromosome is paternally derived)

36
Q

what is associated with syndactyly?

A

T21, SLO, Pfeiffer’s, Apert’s, triploidy

37
Q

Thanataphoric dysplasia:

  • 3 dysmosphic features
  • gene
A
  • macrocephaly, redundant skin, cloverleaf skull (type II)

- FGFR3

38
Q

Reverse transcriptase?

A

transcribes RNA –> DNA

39
Q

examples of post-translational protein modification

A

hydroxylation, glycosylation, cleavage

40
Q

Nonketotic hyperglycinemia see CSF:plasma glycine ratio of what?

A

> 0.08

41
Q

Which one is not associated with advanced paternal age: apert, treacher collins, OI, marfans, klinefelters, thanatophoric dysplasia

A

Klinefelters

42
Q

Waardenburg 3 things:

A
  • white forelock and albinism
  • deafness
  • hirschprung’s
43
Q

what does reverse transcriptase do?

DNA polymerase?

RNA polymerase

A

transcribes RNA to DNA (important for HIV)

replicates DNA to DNA

transcribes DNA to RNA

44
Q

Noonan’s associated with what three things?

A

dysplastic pulmonary valve, cryptorchidism, chylothorax

45
Q

hypotonia, metabolic acidosis, mildly elevated ammonia, *Significant cerebral and cerebellar atrophy?

A

pyruvate dehydrogenase deficiency

NICU (16 decks)

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