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MATERNAL CHILD HEALTH NURSING 2 > In Born Errors of Metabolism > Flashcards

In Born Errors of Metabolism Flashcards

1
Q

A public health program for the early identification of disorders (inborn errors of metabolism) that can lead to mental retardation and death

A

Newborn Screening

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2
Q

Newborn Screening is an integral part ;

A

a. routine newborn care
b. BCG
c. Vitamin K injjction

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3
Q

When is Newborn Screening ideally done

A

after 24 hours to maximum of 48 hours

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4
Q

When is the best time to treat

A

Critical time of age beyond which if no appropriate treatment is given, signs and symptoms are irreversible

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5
Q

How newborn screening began?

A

It was first used for the detection of Phenylketonuria
by Dr. Robert Guthrie (1960) in the US

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6
Q

Newborn Screening is guided by the law

A

RA 9288

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7
Q

RA 9288 Newborn Screening Act of 2004 was enacted

A

April 7, 2004

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8
Q

Signing of the Implementing Rules and
Regulation of RA 9288

A

October 5, 2004

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9
Q

Highlights of Newborn Screening Act of 2004

A

a. Institutionalization of a National Newborn Screening
System
b. Obligation of health workers and professionals to
inform parents about newborn screening and
include such act in the parents record
c. Sample collection may be performed by TRAINED
physicians, medical technologists, nurses and
midwives
d. Monitoring and follow-up of confirmed patients shall
be done regularly for life
e. NS is part of the licensing and accreditation of DOH
f. NBS is a requirement for PHIC accreditation
g. NS is part of the PHIC Newborn Care Package

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10
Q

Disorders tested in ENBS

A

a. Endocrine disorders
b. Amino Acid disorders
c. Fatty Acid Oxidation disorders
d. Organic Acid disorders
e. Urea Cycle defects
f. Hemoglobinopathies (HGB)
g. Others (G6PD deficiency, Galactosemia, Cystic Fibrosis, and
Biotinidase Deficiency)

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11
Q

The NBS Panel of Disorders

A

a. local prevalence
b. reversible if treated on time
c. treatment is available

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12
Q

Importance of Newborn Screening

A

a. One will never know that the baby has the disorder
until the onset of signs and symptoms
b. May already be irreversible such as mental retardation and death

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13
Q

Newborn Screening Fee under what law

A

AO # 2008 - 0026

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14
Q

Fines of Newborn Screening Fee

A

a. 1st offense: warning
b. 2nd offense: 50,000 fine
c. 3rd offense: 100,00 fine

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15
Q

Congenital Hypothyroidism: Effect if not screened

A

Severe growth and mental retardation

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16
Q

Congenital Hypothyroidism: Effect if screened and treated

A

Normal

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17
Q

Congenital adrenal hyperplasia: Effect if not screened

A

death

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18
Q

Congenital adrenal hyperplasia: Effect is screened and treated

A

alive and normal

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19
Q

Galactosemia: Effect is not screened

A

death or cataracts

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20
Q

Galactosemia: Effect if screened and treated

A

alive and normal

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21
Q

G6PD Deficiency: Effect if not screened

A

severe anemia kernicterus

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22
Q

G6PD Deficiency: Effect is screened and treated

A

normal

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23
Q

Phenylketonuria: Effect if not screened

A

severe and mental retardation

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24
Q

Phenylketonuria: Effect if screened and treated

A

normal

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25
Q

Maple Syrup Urine Disease: Effect if not screened

A

death

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26
Q

Maple Syrup Disease: Effect if screened and treated

A

alive and normal

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27
Q

Organic Acid Disorders: without NBS and Treatment

A

a. development delay
b. breathing problems
c. neurologic damage
d. seizures
e. coma
f. early death

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28
Q

Organic Acid Disorders: with NBS and treatment

A

a. alive
b. most will have normal development with episodes of metabolic crisis

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29
Q

Fatty Acid Oxidation Disorder: with NBS and treatment

A

a. usually healthy in between episodes of metabolic crises
b. alive

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30
Q

Fatty Acid Oxidation Disorder: without NBS and treatment

A

a. developmental and physical delays
b. neurologic impairment
c. sudden death
d. coma
e. seizure
f. enlargement of the heart & liver
g. muscle weakness

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31
Q

Hemoglobinopathies: without NBS and treatment

A

a. painful crises
b. anemia
c. stroke
d. multi organ failure
e. death

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32
Q

Hemoglobinopathies: with NBS and treatment

A

a. alive
b. reduces the frequency of painful crises
c. may reduce the need for blood transfusions

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33
Q

Amino Acid disorders: with NBS and treatment

A

a. alive
b. normal growth
c. normal intelligence for some

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34
Q

Amino Acid Disorders: without NBS and treatment

A

a. mental retardation
b. coma and death from metabolic crisis

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35
Q

Best time to treat for CH

A

<2 weeks

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36
Q

Best time to treat for CAH

A

7 days

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37
Q

Best time to treat for PKU

A

2 weeks

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38
Q

Best time to treat for GAL

A

7 days

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39
Q

Best time to treat for MSUD

A

Before 5 days

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40
Q

Best time to treat for G6PD deficiency

A

Avoid trigger agents of hemolysis

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41
Q

Refer to the sequence of
enzyme catalyzed reactions that lead to the
conversion of a substance into a final product

A

Metabolic pathways

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42
Q

Inherited diseases caused by interruptions in
the various pathways involved in the metabolism of
proteins, carbohydrates, and lipids

A

IEMS

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43
Q

IEMS characteristics

A

Most IEMs produce no symptoms during the first
24 hours of life

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44
Q

What substrate need to product byproduct

A

enzyme

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45
Q

Diagnosis of IEM’S is challenging

A

a. the episodic nature of metabolic illness
b. The wide range of clinical symptoms that are
associated with more common conditions like
infection or sepsis
c. The low incidence of these disorders
d. The consequent lack of experience among the
pediatric subspecialties
e. The need for specialty testing

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46
Q

How do we screen for IEM’s

A

a. Expanded newborn screening uses a new
technology called tandem mass spectrometry
b. Only a few drops of the baby’s blood are needed to
do this expanded newborn screening test
c. MS/MS works by separating and measuring
substances according to their weight

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47
Q

Why Early detection of IEM’s is important

A

a. Affected babies are identified quickly before
symptoms appear
b. Cases of disease are not missed
c. Number of false-positive results is minimized
d. Early treatment can begin, that prevents the
negative and irreversible health outcomes for
affected newborns
e. Most treatments are inexpensive and may involve
the addition of vitamin to the diet, hormone
supplementation, avoidance of certain foods and
chemicals and dietary change

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48
Q
A
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49
Q
A
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50
Q

Condition in which an individual does not produce enough thyroid hormone

A

Congenital Hypothyroidism

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51
Q

Butterfly shaped organ on the base of the neck

A

Thyroid gland

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52
Q

Causes of Permanent CH

A

a. Defective development of thyroid gland
b. Enzymatic defect in thyroxine synthesis
c. Pituitary dysfunction (rare)

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53
Q

Causes of Transient CH

A

a. maternal intake of anti-thyroid medication, or excess iodine

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54
Q

Thyroid Hormones

A

a. t3 tri-iodothyronine
b. t4 thyroxine

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55
Q

Which releases TRH

A

hypothalamus

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56
Q

Which releases TSH

A

Pituitary Gland

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57
Q

Clinical Manifestations

A

a. hypotonia
b. prolonged jaundice
c. inactive defecation
d. umbilical hernia
e. pallor, coldness, hypothermia
f. edema, rough facial structures
g. enlarged tongue
h. rough, dry skin
i. open posterior fontanelles
j. delayed overall development

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58
Q

Late Manifestations

A

a. mental retardation
b. growth retardation
c. delayed skeletal maturation
d. delayed dental development and tooth eruption
e. delayed puberty (no menstrual period)

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59
Q

Additional Test on diagnostic evaluation for Congenital Hypothyroidism

A

a. T4, T3 resin uptake - decreased
b. Free T4 - decreased
c. Thyroid hormone globulin
d. Thyroid scan

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60
Q

Diagnostic Evaluation for Congenital Hypothyroidism

A

a. newborn screening
b. initial filter-paper blood spot thyroxine (T4) measurement
c. TSH measurement (if low T4 levels)

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61
Q

Treatment of Congenital Hypothyroidism

A

Thyroid Hormone Replacement

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62
Q

Management of Congenital Hypothyroidism

A

a. Thyroid Replacement (before 2 weeks old)
b. Tablets must be crushed and added to food or small amount of formula or breast milk
c. Do not give soy based formulas and iron supplements

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63
Q

Thyroid Replacement (before 2 weeks old) includes oral administration of synthetic thyroid hormone;

A

a. sodium levothyroxine
b. L-thyroxine
c. synthroid
d. levothyroid

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64
Q

Nursing Management of Congenital Hypothyroidism

A

a. Nurses should ensure that screening is performed
b. Explain to the parents that the disorder necessitates
lifelong treatment
c. Stress the importance of compliance with the drug
regimen for the child to achieve normal G & D
d. Teach client drug overdosage

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65
Q

Client Overdosage

A

a. rapid pulse
b. dyspnea
c. irritability
d. insomnia
e. fever
f. sweating
g. weight loss

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66
Q

An endocrine of the adrenal gland that causes
severe salt loss, dehydration and abnormally high
levels of male sex hormones in both boys and girls

A

Congenital Adrenal Hyperplasia

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67
Q

Enzyme is missing or not working properly in Congenital Adrenal Hyperplasia

A

21-hydroxylase (21-OH)

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68
Q

Parts of Adrenal Gland

A

a. adrenal medulla
b. adrenal cortex

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69
Q

Inheritance of Congenital Adrenal Hyperplasia

A

Autosomal recessive trait

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70
Q

What Adrenal Medulla secretes

A

a. epinephrine
b. norepinephrine
c. somatostatin nd substance P by peptides

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71
Q

What Adrenal Cortex secrete

A

a. Cortisol and Cortisone by glucocorticoid
b. Aldosterone and Corticosterone by mineralocorticoids
c. Estrogen and Testosterone by Androgen

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72
Q

Hormone for maintenance of normal blood sugar

A

Cortisol

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73
Q

Hormone for maintenance of normal serum sodium

A

Aldosterone

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74
Q

Hormone for male sexual differentiation

A

Androgen (testosterone)

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75
Q

What causes a release of Cortisol Releasing Hormone form Hypothalamus

A

Stress

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76
Q

Who secretes ACTH from CRH

A

Anterior Pituitary Gland

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77
Q

Cortisol released from Adrenal Cortex would lead to

A

a. increased blood glucose
b. increased blood amino acids
c. increased blood fatty acids

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78
Q

Where is renin secreted

A

Juxtaglomerular apparatus in kidney

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79
Q

Who secretes angiotensin

A

Liver

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80
Q

Who secretes ACE

A

Lungs

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81
Q

Renin secretion would lead to

A

Aldosterone secretion to increase blood pressure

82
Q

Absence of 21-OH enzyme would lead to

A

a. decreased cortisol and aldosterone

83
Q

Is a protein that serves as a precursor in the synthesis of cortisol, and its elevated levels are commonly used to diagnose congenital adrenal hyperplasia (CAH)

A

17-OHP (17-hydroxyprogesterone)

84
Q

An enzyme that converts 17-hydroxyprogesterone and a deficiency of it impairs the production of cortisol and aldosterone

A

21-hydroxylase

85
Q

Deficiency of 21-hydroxylase leads to a compensatory increase in adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce more precursors like 17-hydroxyprogesterone (17-OHP). As a result, 17-OHP levels become elevated because it is a precursor in the cortisol synthesis pathway. Since cortisol production is impaired, the excess 17-OHP is shunted toward androgen production, causing

A

increased androgen levels

86
Q

In complete 21-hydroxylase deficiency this leads to

A

a. loss of sodium and chloride
b. elevated potassium

87
Q

Used to check for ambiguous genitalia

A

Ultrasonography

88
Q

Main features of CAH

A

a. cortisol deficiency
b. aldosterone deficiency
c. testosterone excess

89
Q

Aldosterone deficiency would lead to

A

a. low serum sodium
b. high serum potassium

90
Q

Low level of cortisol and aldosterone stimulates what

A

Anterior Pituitary gland

91
Q

Stimulated adrenal gland hyperplasia would lead to

A

a. increases release of aldosterone, cortisol & androgens

92
Q

Too much androgen would lead to

A

a. Girls develop masculine characteristics
b. Boys develop masculine characteristics too rapidly

93
Q

Clinical Manifestations of Congenital Adrenal Hyperplasia

A

a. Salt-losing (salt wasting) form of CAH - low cortisol, low aldosterone, no salt retention and fluid retention

b. immediately after birth - vomiting, diarrhea, anorexia, weight loss, extreme dehydration

94
Q

If symptoms of clinical manifestations remain untreated, it would lead to

A

a. extreme loss of salt & fluid can lead to shock & death as early as 48-72 hours

95
Q

Late Manifestations of Congenital Adrenal Hyperplasia

A

a. precocious puberty
b. pubic hair growth
c. oily skin
d. body odor
e. dark skin color

96
Q

Precocious puberty

A

a. early sexual maturity and bone maturation
b. accelerated growth during childhood
c. short adult stature

97
Q

Hormone Replacement

A

a. hydrocortisone - pill, synthetic hormone
will be given throughout newborn’s life to
prevent CAH effects
b. Recommended oral dosage is divided to
stimulate the normal diurnal pattern of ACTH secretion

98
Q

Diagnostic Evaluation of Congenital Adrenal Hyperplasia

A

a. Congenital abnormalities - difficulty in assigning sex to newborn
b. 17-OHP – increased serum 17-ketosteroid levels -
definitive diagnosis
c. In 21 complete hydroxylase deficiency ; loss of sodium and chloride
elevated potassium
d. ultrasonography - ambiguous genitalia

99
Q

Lifelong treatment of deficient cortisol

A

a. hydrocortisone
b. prednisone

100
Q

Management of Congenital Adrenal Hyperplasia

A

a. hormone replacement
b. lifelong treatment of deficient cortisol
c. aldosterone
d. reconstructive surgery

101
Q

Aldosterone

A

a. Fludrocortisone

102
Q

Reconstructive Surgery

A

a. reduce the size of clitoris
b. separate the labia
c. create vaginal orifice

103
Q

Nursing management

A

a. Nurse should recognize ambiguous genitalia in
newborn
b. Explain to the parents about child’s condition
c. Refer the infant as “child” or “baby” rather than “he”
or “she”
d. Refer to the external genitalia as sex organs
(penis/clitoris and scrotum/labia)
e. Teach parents signs of dehydration and its
treatment
f. Teach parents how to prepare and administer
hydrocortisone IM
g. Refer parents for genetic counseling

104
Q

Enzyme that is deficient for a child having Galactosemia

A

Galactose 1 - Phosphate Uridyltransferase

105
Q

Metabolic disorder characterized by the body’s
inability to use galactose as a source of energy

A

Galactosemia

106
Q

A disorder of carbohydrate metabolism
characterized by abnormal amounts of galactose in
the blood

A

Galactosemia

107
Q

what is being converted to glucose through the action of the hepatic enzyme galactose-1-phosphate uridyltransferase, which facilitates its entry into glycolysis or glycogenesis pathways.

A

Galactose 1 -phosphate

108
Q

Inheritance of Galactosemia

A

Autosomal recessive trait

109
Q

Enzyme that converts galactose to glucose

A

Galactose 1 - Phosphate Uridyltransferase

110
Q
A
111
Q

Excessive Galactose 1 -phosphate leads to

A

a. cognitive delay
b. jaundice
c. hepatomegaly
d. cirrhosis
e. cataracts

112
Q

Buildup of galactose in blood would lead to

A

a. jaundice
b. cataract
c. brain damage
d. kidney problems
e. death

113
Q

Diagnostic Evaluation of Galactosemia

A

a. history taking
b. physical exam
c. galactosuria
d. increased levels of galactose in the blood
e. decreased levels of uridine diphosphate (UDP)

114
Q

Physical Exam

A

a. malnutrition
b. dehydration
c. decreased muscle mass and body fat

115
Q

Clinical Manifestations of Galactosemia

A

a. normal at birth
b. develop symptoms a few days to 2 weeks after initiation of milk feedings

116
Q

Develop symptoms a few days to 2 weeks after initiation of milk feedings

A

a. poor feeding
b. vomiting, and occasionally diarrhea
c. jaundice
d. lethargy, weakness, coma

117
Q

Can cause hemolytic anemia usually after exposure
to certain medications, food, or even infections

A

Glucose 6 Phosphate Dehydrogenase Deficiency

118
Q

An inherited condition in which the body lacks the
enzyme glucose-6-phosphate dehydrogenase
which helps RBCs function normally

A

Glucose 6 Phosphate Dehydrogenase Deficiency

119
Q

Inheritance of Glucose 6 Phosphate Dehydrogenase Deficiency

A

X-linked recessive trait

120
Q

Trivias about G6Pd deficiency

A

a. An estimated 400 MILLION people worldwide have
g6pd deficiency
b. Occurs most frequently in certain parts of Africa,
Asia, Mediterranea, and Middle East

121
Q

A molecule with proteins and iron where oxygen binds

A

Hemoglobin

122
Q

Has iron

A

Heme

123
Q

Functions of G6PD

A

a. Enzyme needed for the protection of RBC from
oxidative substances
b. G6PDC gene is located near the telomeric region of
the long arm of the X chromosome (Xq28)

124
Q

Energy pathway that supplies energy to cells and RBC that are deficient in G6PD enzyme are
susceptible to rupture (haemolysis) when subjected
to oxidative stress

A

Pentose Phosphate Pathway

125
Q

G6PD deficiency

A

Kids with G6PD deficiency typically do not show any
symptoms of the disorder until their RBC are exposed to
certain triggers

126
Q

Certain triggers

A

a. Illness, such as bacterial and viral infections
b. Certain painkillers and fever-reducing drugs like
Aspirin
c. Certain antibiotics – esp. Those that have “sulf” in
their names like Sulfamethoxazole-bactrim
d. Certain antimalarial drugs – those that have “quine” and “xacin” in their names like Chloroquine
e. SOYA foods – taho, tokwa, soy sauce
f. Red wine
g. Legumes – munggo, garbanzos, abitsuelas
h. Vitamin K
i. Naphthalene (moth balls)
j. FAVA beans
k. Blueberries

127
Q
A
128
Q

When RBC’s are destroyed it would lead to

A

Hemolytic Anemia

129
Q

Hemolytic Anemia would lead to

A

a. pallor
b. dizziness
c. headache
d. difficulty of breathing
e. palpitations
f. tea-colored urine

130
Q

Destroyed RBC is broken down by

A

Liver

131
Q

Accumulation of excess bilirubin would lead to

A

a. jaundice in skin
b. MR or death in brain

132
Q

Liver produces what byproduct

A

Bilirubin

133
Q

Tea colored urine is caused by

A

due to the excessive breakdown of bilirubin

134
Q

Clinical Manifestations of G6PD deficiency

A

a. Dark urine
b. Fever
c. Pain in abdomen
d. Enlarged spleen and liver
e. Fatigue
f. Pallor
g. Rapid heart rate
h. Shortness of breath
i. Jaundice

135
Q

Diagnostic Tests used for G6PD deficiency

A

a. Check G6PD levels
b. Bilirubin levels
c. CBC (Hgb)
d. Check presence of Hgb in urine
e. Haptoglobin level
f. LDH test
g. Methemoglobin reduction test
h. Reticulocyte count

136
Q

Management of G6PD deficiency

A

a. Limit exposure to triggering factors of its symptoms
b. Give folic acid
c. Photheraphy
d. Blood transfusion

137
Q

Folic acid is give to

A

Prevent hemolysis and support production of RBC

138
Q

Drugs with definite risk of hemolysis in most G6PD deficient individuals

A

a. Dapsone and other sulfones
b. Methylthioninium chloride
c. Niridazole
d. Nitrofurantoin
e. Pamaquine
f. Primaquine
g. Quinolones
h. Rasburicase
i. Sulfonamides

139
Q

Dapsone and other sulfones

A

higher doses for dermatitis herpetiformis more likely to cause problems

140
Q

Quinolones

A

a. ciprofloxacin
b. moxifloxacin
c. nalidixic acid
d. norfloxacin
e. ofloxacin

141
Q

Drugs with possible risk of hemolysis in most G6PD deficient individuals

A

a. Aspirin
b. Chloroquine
c. Menadione, water, soluble derivatives –
menadiol sodium phosphate
d. Quinidine
e. Quinine
f. Sulfonylureas
g. Naphthalene

142
Q

Molecules that combine to form proteins

A

Amino Acids

143
Q

Amino Acid Disorders

A

a. Phenylketonuria
b. Maple Syrup Urine Disease

144
Q

Building blocks of
life

A

Amino Acids and Proteins

145
Q

Build muscles, cause chemical reactions in the
body, transport nutrients, prevent illness, and carry
out other functions

A

Amino Acids

146
Q

Essential Amino Acids

A

a. 9 Amino Acids
b. Cannot be produced by the body
c. Can only be get from food

147
Q

Functions of Amino Acids

A

a. To build and repair the body
b. To regulate and maintain the body
c. To give energy to the body

148
Q

Non Essential Amino Acids

A

a. 11
b. Can be produced by the body

149
Q

Deficiencies of Amino Acids lead to;

A

a. Decreased immunity
b. Digestive problems
c. Depression
d. Fertility issues
e. Lower mental alertness
f. Slowed growth in children

150
Q

An absence of the enzyme,
phenylalanine hydroxylase (PAH) needed to
metabolize the essential amino acid phenylalanine which leads to excessive accumulation of phenylalanine is
neurotoxic in the body that causes brain damage

A

Phenylketonuria

151
Q

Absence of the enzyme Phenylalanine Hydroxylase leads to

A

Decreased Tyrosine

152
Q

Inheritance of Phenylketonuria

A

Autosomal Recessive

153
Q

Decreased tyrosine leads to

A

a. decreased tryptophan
b. decreased levels of serotonin
c. decreased dopa
d. decreased plasma levels of catecholamines
e. decreased melanin
f. fair skin, blue eyes, blond hair

154
Q

The first effects of phenylketonuria are usually seen around

A

6 months of age

155
Q

Untreated infants with phenylketonuria may be

A

a. late in learning, to sit, crawl, stand

156
Q

Absence of phenylalanine hydroxylase would lead to

A

accumulation in the blood and body tissues

157
Q

Cognitive perception of infants with phenylketonuria

A

Pay less attention to things around them

158
Q

Without treatment a child with phenylketonuria will become

A

Mentally retarded

159
Q

Excess phenylketonuria would lead to

A

Preventing normal brain development and result in mental retardation

160
Q

Diagnostic test used for Phenylketonuria

A

Guthrie bacterial inhibition assay

161
Q

Guthrie bacterial inhibition assay

A

a. check phenylalanine levels in the blood
b. presence of bacillus subtilis
c. normal range (newborn): 0.5-1.0 mg/dl
d. normal value: 1.6 mg/dl

162
Q

Presence of bacillus subtilis indicates

A

excessive amounts of phenylalanine

163
Q

Management of phenylketonuria

A

a. protein diet restriction for their entire life
b. Frequent monitoring of phenylalanine and
tyrosine levels

164
Q

Protein diet restriction for their entire life

A

Should start as soon as possible but not
later than 7–10 days

165
Q

Nursing Management for Phenylketonuria

A

a. Teach the family about dietary restrictions
b. Foods low in phenylalanine levels
c. Encourage prenatal testing or genetic counseling
for future pregnancies

166
Q

Foods low in phenylalanine levels

A

a. Some vegetables – exp. Legumes
b. Fruits
c. Juices
d. Cereals
e. Breads
f. Starches

167
Q

Rare genetic metabolic disorder wherein the body can’t break down branched amino acids

A

Maple Syrup Urine Disease

168
Q

For future pregnancies

A

Encourage prenatal testing or genetic counseling

169
Q

Inability to break down branched amino acids leads to

A

Buildup of amino acids and toxic metabolic
byproducts

170
Q

The condition gets its name from

A

distinctive
sweet odor of affected infants’ urine

171
Q

This amino acid has characteristic sweet smell which gives the disorder its name

A

Isoleucine

172
Q

What enzyme is absent in Maple Syrup Urine Disease

A

Branched-chain ketoacid dehydrogenase (BCKAD)

173
Q

What kind of disorder is Maple Syrup Urine Disease

A

Amino Acid Disorder

174
Q

Branched-chain amino acids

A

a. leucine
b. isoleucine
c. valine

175
Q

What chromosome disrupts BCKAD

A

Chromosome 19q13

176
Q

Leucine is converted to 2-ketoisocaproate by

A

branched chain amino acid aminotransferase

177
Q

Isoleucine is converted to 2-keto-3methylvalerate by

A

branched chain amino acid aminotransferase

178
Q

Valine is converted to 2-ketoisovalerate by

A

branched chain amino acid aminotransferase

179
Q

2-ketoisocaproate would be converted into

A

Acetoacetate and Acetyl-CoA

180
Q

2-ketoisocaproate, 2-keto-3-methylvalerate, 2-ketoisovalerate would not move forward when their is absence of

A

Branched chain amino acid dehydrogenase

181
Q

2-keto-3-methylvalerate would be converted to

A

Acetyl Coa and Propionyl-CoA

182
Q

2-ketoisovalerate would be converted into

A

Propionyl-CoA

183
Q

Absence of branched chain Amino Acids would lead to

A

Buildup

184
Q

If MSUD is not treated, it is life threatening

A

a. Episodes where muscles tone alternates between
being rigid and floppy
b. Swelling of the brain
c. Seizures
d. High levels of acidic substances in the blood, called
metabolic acidosis
e. Coma, sometimes leading to death

185
Q

Common in the Philippines

A

Classic MUD

186
Q

Classic MUD first symptoms about 3-5 days

A

a. Poor appetite / feeding
b. Irritability / high pitch
c. Incessant crying
d. Characteristic odor of cerumen and urine

187
Q

After a few days, they

A

a. Become limp with episodes of rigidity
b. Have seizures
c. Lose their sucking reflex
d. Have increased sleeping time
e. Become comatose

188
Q

Diagnosis of MSUD

A

a. Plasma amino acid test
b. Urine organic acid test
c. Genetic testing

189
Q

Treatment of MSUD

A

a. Medical Formula
b. Diet low in branched-chain amino acids
c. Supplements
d. Tracking BCAA levels
e. Liver transplant
f. Low protein – must be carefully measured
g. High protein – must be avoided !!

190
Q

No enzyme for the substrate would lead to

A

Deficiency of the existing byproduct before

191
Q

No enzyme for the substrate would lead to

A

Buildup and toxicity

192
Q

Often the first consideration in infants
who present with lethargy and poor feeding

A

Sepsis

193
Q

These
symptoms in a full term infant with no specific risk factors
strongly suggest a metabolic disorder

A

lethargy and poor feeding

194
Q

Infants with _ may become debilitate and septic rather
quickly, and it is therefore important that the presence of
sepsis not exclude consideration of other possibilities.

A

Inborn errors of metabolism

195
Q

Life-threatening condition caused by the inability to process certain nutrients or toxins, leading to metabolic instability

A

Metabolic Crisis

196
Q

Signs and symptoms of Metabolic Crisis

A

a. Extreme sleepiness
b. Sluggishness
c. Irritable mood
d. Vomiting

197
Q

If not treated, other symptoms follow

A

a. Muscle rigidity
b. Swelling of the brain
c. Seizures
d. High levels of acidic substances in the blood
e. Coma, sometimes leading to death

198
Q

Increased enzyme activity would lead to

A

Increase disposal of toxic metabolites

199
Q

To prevent accumulation and metabolic crisis

A

Decrease substrate availability

200
Q

To improve metabolic flow

A

Increase enzyme activity

201
Q

Enhancing the clearance or breakdown of toxic byproducts to prevent harmful effects

A

Increase disposal of toxic metabolites

MATERNAL CHILD HEALTH NURSING 2 (3 decks)

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