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Cytogenetics > Congenital Metabolic Disorders > Flashcards

Congenital Metabolic Disorders Flashcards

1
Q

the transformation of the simple three germ layers into distinct organs

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

Organogenesis

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2
Q

The layer nearest the amniotic cavity

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

ectoderm

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3
Q

the inner layer, closer to the blastocyst cavity

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

endoderm

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4
Q

the middle layer of the embryo

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

mesoderm

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5
Q

Cells in the ________ become skin, nervous tissue, or parts of certain glands.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

ectoderm

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6
Q

_______ cells form parts of the liver and pancreas and the linings of many organs.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

endoderm

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7
Q

The middle layer of the embryo, the __________, forms many structures, including muscle, connective tissues, the reproductive organs, and the kidneys.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

mesoderm

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8
Q

During week 3, a band called ___________ appears along the back of the embryo

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

primitive streak

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9
Q

By week __, all the organs that will be present in the newborn have begun to develop.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

week 8

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10
Q

During the _____, body proportions approach those of a newborn

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

fetal period

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11
Q

sex organs become more distinct by week __

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

week 6

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12
Q

by week __, it begins to suck thumb, kicks, makes fists and faces, and has the beginnings of teeth

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

week 12

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13
Q

vocal cords will be formed by ___ weeks

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

18 weeks

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14
Q

By the end of the ________, the woman may feel district kicks and jabs and may detect fetal hiccup.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

second trimester

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15
Q

In the ________, fetal brain cells link into networks as organs elaborate and grow, fat fills out the skin.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

final trimester

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16
Q

the _______ trimester is the most crucial for the baby’s development.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

first trimester

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17
Q

The cardiovascular and digestive systems mature last. True or False

A

False - digestive and respiratory system

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18
Q

The time when genetic abnormalities, toxic substances, or viruses can alter a specific structure, is __________

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

critical period

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19
Q

Most birth defects develop during the ________ and much severe.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

embryonic period

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20
Q

A procedure to detect if a newborn has congenital metabolic disorders that may lead to mental retardation or death.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

A

Newborn screening

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21
Q

Most newborns with congenital disorders look normal at birth. True or False

A

False - metabolic disorders

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22
Q

In newborn screening, the blood sample is collected within the first 24 hours of life in term newborns. True or False

A

True

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23
Q

If the result is positive, it will undergo confirmatory testing. True or False

A

True

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24
Q

Phenylketonuria is the most commonly diagnosed newborn screening disorder. True or False

A

False - G6PD

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25
Q

G6PD is onset after being exposed to triggering factors. True or False

A

True

26
Q

a butterfly-shaped organ that produces thyroid hormones.

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

Thyroid gland

27
Q

produces hormones such as epinephrine or adrenaline, cortisol, and aldosterone. Aldosterone helps reabsorb sodium.

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

Adrenal gland

28
Q

____________________ is important for the conversion of it into Tyrosine

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

Phenylalanine

29
Q

_________ is converted to glucose for energy storage (glycogen) and energy production

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

Galactose

30
Q

it protects RBCs from damage and premature destruction

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

G6PD

31
Q

The enactment of the NBS of 2004

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

April 6, 2004

32
Q

The signing of the implementing rules and regulation of RA 9288

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

October 5, 2004

33
Q

The most common cause is the shortage of iodine in the diet of the mother during pregnancy

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital hypothyroidism

34
Q

Missing or lack of phenylalanine hydroxylase

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Phenylketonuria

35
Q

Its clinical manifestation develop a few days to 2 weeks after initiation of milk feedings

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Galactosemia

36
Q

Autosomal recessive and has a deficiency in 21-hydroxylase

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Adrenal Hyperplasia

37
Q

Hemolytic anemia

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

G6PD deficiency

38
Q

Mutations in genes BCKDHA in chromosome 19, BCKDHB in chromosome 6, and DBT in chromosome 1

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Maple syrup urine disease

39
Q

The most severe type of galactosemia

CHOICES:
Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

A

Type 1

40
Q

The genes that are affected - Galactose-1-phosphate uridyltransferase (GALT), Galactokinase 1 (GALK1), UPD-Galactose-4-epimerase (GALE)

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Galactosemia

41
Q

CYP21A2 gene is affected

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Adrenal Hyperplasia

42
Q

Its first effects are usually seen around 6 months of age

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Phenylketonuria

43
Q

Clinical Manifestations:

  • sweet-smelling urine
  • erratic behavior and moods - hallucinations
  • anorexia
  • seizures
  • toxic substances accumulate, triggering the chemoreceptors, making you vomit

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Maple syrup urine disease

44
Q

Clinical Manifestations:

  • Pallor
  • extreme tiredness
  • rapid heartbeat and breathing
  • jaundice
  • splenomegaly
  • tea-colored urine

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

G6PD deficiency

45
Q

Clinical Manifestations:

  • poor suck
  • vomiting
  • occasionally diarrhea
  • jaundice
  • lethargy
  • weakness
  • coma
  • septicemia

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Galactosemia

46
Q

Clinical Manifestations:

  • Vomiting
  • Hyperactivity
  • Seizures and hypertonia
  • Musty or mousy urine odor
  • Light hair and skin color
  • Seborrheic or eczematoid
  • rash
  • Mental retardation

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Phenylketonuria

47
Q

Clinical Manifestations:

  • increased pigmentation
  • ambiguous genitalia in female infants
  • poor suck
  • weak cry
  • vomiting
  • excessive urination
  • dehydration
  • irritability and seizures
  • failure to thrive
  • hypotension
  • shock
  • coma

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Adrenal Hyperplasia

48
Q

Early Manifestations:

  • Prolonged jaundice
  • Inactive defecation
  • Umbilical hernia
  • Hypotonia

Late Manifestations:

  • Mental retardation
  • Growth retardation
  • Delayed skeletal maturation
  • Delayed dental development and tooth eruption
  • Delayed puberty

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital hypothyroidism

49
Q

1 in 2,000 to 4,000 newborns are affected

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Hypothyroidism

50
Q

abnormal sex organs such as large clitoris or there is a small appearance of small penis and closed labial folds

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Adrenal Hyperplasia

51
Q

Treatment includes complete avoidance of food containing high amounts of phenylalanine

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Phenylketonuria

52
Q

Treatment includes a low galactose/lactose diet

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Galactosemia

53
Q

sporadic

CHOICES:
Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

A

Congenital Hypothyroidism

54
Q

If there is no phenylalanine defect, there would be a production of tyrosine and later becomes melatonin. True or False

A

False - melanin

55
Q

Hormone replacement therapy and surgery is a treatment for G6PD deficiency. True or False

A

False - Congenital Adrenal Hyperplasia

56
Q

A 2-week-old infant’s digestive system cannot tolerate and break down galactose. True or False

A

True

57
Q

The first effects of PKU are usually seen around 3 months of age. True or False

A

False - 6 months

58
Q

Pentose phosphate pathway converts glucose into another sugar. True or False

A

True

59
Q

production of progesterone is blocked thus, females with CH

have male sex characteristics. True or False

A

False - CAH

60
Q

Patients with CH has a skin that is rough and dry. True or False

A

True

Cytogenetics (12 decks)

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