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MedGen (Personal) > Metabolism > Flashcards

Metabolism Flashcards

1
Q

Metabolism definition

A

sum of all chemical reactions occurring within the cells of the body

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2
Q

Goal of metabolism

A

Maintain a constant source of energy for the body

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3
Q

Polysaccharides

A

Complex carbs

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4
Q

Monosaccharides

A

Simple sugars (mostly glucose)

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5
Q

What is the primary energy source of the body

A

Glucose

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6
Q

What is excess glucose stored as

A

glycogen

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7
Q

Where is glycogen stored

A

Liver and muscle

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8
Q

What is glucose converted into once glycogen stores are full

A

fatty acids and glycerol

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9
Q

What does glycerol get converted to in storage

A

Triglycerides

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10
Q

How many essential amino acids are there

A

9

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11
Q

How many non-essential amino acids are there

A

11

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12
Q

What are essential amino acids

A

Amino acids that aren’t created by the body

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13
Q

Extra amino acids are converted to

A

Glucose and fatty acids (fatty acids eventually stored as triglycerides)

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14
Q

Three types of fats

A

Triglycerides, monoglycerides, and free fatty acids

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15
Q

Excess circulating fatty acids are incorporated into

A

triglycerides

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16
Q

Where are triglycerides stored

A

mostly adipose tissue (fat), some muscle

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17
Q

Stages of energy use in the body

A

Glycogenolysis, gluconeogenesis, ketogenesis

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18
Q

Glycogenolysis time

A

1 hour after eating

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19
Q

Gluconeogenesis time

A

5 hours after eating

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20
Q

Ketogenesis time

A

10-12 hours after eating

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21
Q

Glycogenolysis definition

A

breakdown of glycogen into glucose (1-4 hours of fasting)

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22
Q

Gluconeogenesis definition

A

New creation of glucose from amino acids (3-12 hours of fasting)

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23
Q

Ketogenesis definition

A

fatty acid oxidation, creation of ketones from fatty acids (10+ hours of fasting)

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24
Q

Anabolism

A

Feeding/fed state
Buildup (synthesis) of larger organic macromolecules from smaller subunits

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25
Q

Anabolism results

A

Manufacture of material needed in the cell
Storage of excess ingested nutrients that are not immediately needed for energy production or as cellular building blocks

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26
Q

Catabolism

A

Fasting state
Breakdown (degradation) of large, energy-rich organic molecules within cells

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27
Q

Catabolism results

A

Breakdown of stored energy resources into smaller nutrients available for energy use (glycogen to glucose)

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28
Q

Primary energy users of the body

A

brain and muscle

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29
Q

Preferred source of energy for the brain

A

Glucose (can’t store glycogen)
Prolonged fasting can lead to brain using ketones

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30
Q

Primary site for amino acid storage

A

Muscle

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31
Q

Which organ is concerned with maintenance of normal blood glucose levels

A

Liver
Stores glycogen when excess glucose is available
Releases glucose into blood when needed
Principal site for conversion of glycogen into glucose

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32
Q

Other functions of liver

A

Production of enzymes for blood clotting
Metabolism of bilirubin

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33
Q

Primary energy storage site

A

Adipose tissue

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34
Q

Adipose tissue helps regulate what

A

fatty acid levels in blood

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35
Q

Lysosomes do what

A

Intracellular digestion

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36
Q

What happens if lysosomal enzyme doesn’t work

A

massive buildup/storage of material can cause lysosome to swell and burst

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37
Q

Mitochondria do what

A

Energy organelles that are powerhouse of cell

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38
Q

How do mitochondria work

A

Extract energy from nutrients via mitochondrial oxidation phosphorylation (respiratory chain)
B-oxidation of fatty acids

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39
Q

Peroxisomes do what

A

Intracellular waste treatment center

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40
Q

Major product of peroxisome

A

Hydrogen peroxide (H2O2)

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41
Q

Peroxisomes contain what

A

enzymes responsible for processing B oxidation of very long chain fatty acids (VLCFA)

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42
Q

Emia suffix

A

Regarding the blood

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43
Q

Uria suffix

A

Regarding the urine

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44
Q

Hyper prefix

A

too much

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45
Q

Hypo prefix

A

too little

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46
Q

Lys suffix

A

break down

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47
Q

Genesis suffix

A

creation

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48
Q

cofactor

A

Helper molecules for enzymes
Vitamins and minerals

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49
Q

Inborn errors of metabolism (IEMs) disease mechanism

A

Toxic accumulation of substances
Reduction of normal compounds

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50
Q

IEMs are usually caused by what

A

single-gene disorders
Code for enzymes that convert substrate into product

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51
Q

How many IEMs are there

A

1000

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52
Q

Incidence of IEMs

A

1/1500

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53
Q

Most IEMs have what inheritance pattern

A

AR
Can be X-linked or AD

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54
Q

Continuum of disease

A

Acute (PKU)
Late-onset (Gaucher)

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55
Q

Acute IEMs

A

Onset early in life
Severe if untreated
Progressive

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56
Q

Late onset IEMs

A

Onset may be in adulthood
Can live long time without treatment
Progressive

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57
Q

Genetic mutations of IEMs cause

A

reduced activity of enzyme
Reduce or lessen effectiveness of cofactors or activators for the enzyme
Produce defective transportation of compounds in the bodyl

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58
Q

Disruptions of metabolic pathway can cause

A

shunting of accumulated substrates on other pathways
Accumulation of toxic substrates/products
Deficient products of the missing enzyme

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59
Q

Treatment of IEMs

A

Limit substrate and substrate precursors
Process toxic products through alternative pathways
Supplement cofactor
Provide missing enzyme (enzyme replacement therarpy/transplant)
Supplement products and downstream products

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60
Q

Clinical features of IEMs in infant/child

A

Vomiting, seizures, ataxia, lethargy, coma, hepato-encephalopathy
Dysmorphic (coarse) features
Skeletal abnormalities
Poor feeding, FTT
Dilated or hypertrophic cardiomyopathy, hepatomegaly, jaundice, and liver dysfunction
Developmental delays
Hypotonia/hypertonia
Visual/auditory disturbances

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61
Q

Clinical features of IEMs in older children/adults

A

Varying degrees of LD/DD/ID, autism
Exercise intolerance
Muscle weakness (can be progressive)
Behavioral disturbances (delirium, hallucinations, agitation, aggressiveness)
Ataxia
Anxiety/panic attacks
Seizures

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62
Q

Episodes of symptoms for IEMs can be

A

Acute
Intermittent
Precipitated by stress (mental and physical-infection, pregnancy)
Progressive
Associated with feeding

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63
Q

Hypoglycemia

A

Normal: 70-140 mg/dl (80-120)
Hypoglycemia in children: <50 mg/dl
Hypoglycemia in adults: <55 mg/dl

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64
Q

Glucose is recovered from three different sources

A

Exogenous glucose via food is used immediately, excess stored in liver as glycogen
Liver glycogen maintains fasting blood glucose via continuous glycogenolysis - capacity for storage in this form is relatively small and can provide gluocse for 24-48 hours
Gluconeogenesis: formation of glucose from amino acids and other sugars - occurs coincidentally with glycogenolysis but can supply glucose for much longer period of time

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65
Q

Energy production alternatives for hypoglycemia

A

Fatty acid oxidation
Ketone production and oxidation (brain)
Metabolism of lactate

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66
Q

IEMs with hypoglycemia as prominent component

A

Glycogen storage disease type 1 - carb metabolism
MCAD deficiency - fat metabolism

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67
Q

IEMs with hypoglycemia as secondary component

A

Disorders of protein metabolism
Mitochondrial disease

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68
Q

Hyperammonemia

A

Normal <80 umol/l
Elevated >80 umol/l

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69
Q

Ammonia

A

NH4
Constantly produced by liver, intestinal mucosa, and kidneys

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70
Q

How is free ammonia removed from the blood

A

By the liver and kidneys
Excreted in urine as urea after traveling through the urea cycle

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71
Q

What happens when ammonia accumulates

A

Disrupts ATP production

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72
Q

Neurologic symptoms frequently result from

A

hyperammonemia

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73
Q

Many disorders with hyperammonemia present

A

after initial asymptomatic/normal period following birth
Stress - labor and delivery, inter-current infections

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74
Q

Significant hyperammonemia

A

> 300 umol/l - 1000 umol/l

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75
Q

Urea cycle defects have what level of hyperammonemia

A

10-100X above normal

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76
Q

2-3x above normal level of hyperammonemia can be seen in

A

mitochondrial disorders and other protein metabolism problems

77
Q

pH

A

normal 7.4
Acidosis - <7.35
Alkalosis - >7.45

78
Q

How is pH caluclated

A

logarithmic of hydrogen-ion concentration
Every unit change in pH is tenfold change in H+

79
Q

Excretion of H+ makes

A

CO2

80
Q

Respiratory alkalosis

A

caused by excessive loss of CO2 as a result of hyperventilation

81
Q

Respiratory acidosis

A

Caused by abnormal CO2 retention arising from hypoventilation

82
Q

Metabolic alkalosis

A

Reduction of plasma (H+) arises most commonly from - vomiting, ingestion of alkaline drugs such as calcium carbonate

83
Q

Metabolic acidosis

A

Caused by net gain of H+ or loss of HCO3- (bicarbonate)
Encompasses all types of acidosis besides that caused by excessive CO2 in body fluids

84
Q

Metabolic acidosis arises from

A

severe diarrhea, diabetes mellitus, strenuous exercise, and severe renal failur

85
Q

Metabolic acidosis secondary causes

A

severe infection/sepsis, advanced catabolic state, tissue hypoxia, dehydration, and intoxication

86
Q

Anion gap

A

difference between major cations (NA+ and K+) and major measured anions (Cl- and bicarbonate)

87
Q

Normal anion gap

A

<16

88
Q

Possible reasons for anion gap increase

A

lactate, ketones, organic acids
Can be measured in blood or urine

89
Q

Primary IEMs associated with metabolic acidosis

A

Disorders of protein metabolism
Disorders of fat metabolism
Mitochondrial disease

90
Q

Lactic acidosis

A

Too much lactic acid in blood

91
Q

Best diagnostic markers for disturbed mitochondrial energy metabolism

A

Elevated lactate and pyruvate

92
Q

Lactate is produced from

A

Pyruvate

93
Q

Lactate is easier to measure than pyruvate by

A

blood and spinal fluid

94
Q

Plasma lactate levels increase by what two mechanisms

A

Increased pyruvate production (glycolysis)
Decreased pyruvate consumption/oxidation (by pyruvate dehydrogenase complex or pyruvate carboxylase)

95
Q

Primary hyperlacticacidemia

A

Carbohydrate metabolism (disorders of liver glycogen metabolism)
Mitochondrial disease (electron transport/respiratory chain defects)

96
Q

Secondary hyperlacticacidemia

A

Protein or fat metabolism (organic acidemias, urea cycle defects, fatty acid oxidation defects)

97
Q

Ketoacidosis

A

Acidosis caused by too many ketones

98
Q

How are ketones formed

A

excess acetyl-CoA (involved in carbohydrate and lipid metabolism)
Used as alternative energy sources in tissues

99
Q

Ketones are formed by

A

liver during times of fasting

100
Q

Ketoacidosis from

A

Ketone utilization or increased ketone production

101
Q

Ketoacidosis is usually what type of result of metabolic disorders

A

secondary

102
Q

Creatine Kinase (CK)

A

Provides information regarding muscle breakdown and injury

103
Q

Creatine kinase levels

A

Normal for adult 22-170 U/L

104
Q

Serum CK levels can be due to

A

Muscle damage
Elevations due to acute muscle trauma elevated 4-6 hours after event
Peak values 18-30 hours
Return to normal by 72 hours

105
Q

CK-MB isoenzyme

A

Measure of cardiac muscle damage

106
Q

Rhabdomyolysis

A

Sudden increase in serum concentrations of CK

107
Q

Rhabdomyolysis can be observed in

A

Carbs, fat, and mitochondrial IEMs associated with muscle disease

108
Q

Myoglobinuria

A

Muscle tissue pigment in urine
Severe rhabdomyolysis

109
Q

Carnitine

A

Fatty acids and proteins are broken down and their backbone structures are attached to carnitine
Shuttle across mitochondrial membrane and within mitochondria as they are metabolized into energy/ATP (move carbon chain backbones)
Help with transport of LCFAs

110
Q

Carbon chain backbones are broken down by mitochondria by

A

B-oxidation
Used t provide energy in form of ATP

111
Q

Two forms of carnitine

A

bound and free - describes carrier state

112
Q

Bound carnitine-carbon complexes

A

varying lengths and are acylcarnitines
Divided into lengths - very long, long, medium, and short

113
Q

Defects in carbohydrate metabolism

A

Galactosemia
Hereditary Fructose Intolerance
Glycogen storage disease (GSD)

114
Q

Hepatic forms of glycogen storage

A

GSD1 - von Gierke’s disease
GSD III - Cori Disease
Enlarged liver - excess glycogen
Treatment with cornstarch

115
Q

Muscular forms of GSD

A

GSD II - Pompe disease (also a lysosomal storage disease)
GSD V - McArdle’s disease

116
Q

Galactosemia

A

Due to deficient activity of galactose - I - phosphate uridyltransferase (GALT)
GALT catalyzes production of UPD galactose from galactose-I-Phosphate and UDP glucose
Gene at 9p13
AR

117
Q

Classic galactosemia

A

complete or near complete enzyme deficiency - 5% or less

118
Q

Partial transferase deficiency galactosemia

A

More frequent than classic galactosemia
Enzyme activity 10-50% of normal
Generally asymptomatic
Duarte variant is best known

119
Q

Newborn screening diagnosis of Galactosemia

A

high levels of Galactose-I-Phosphate
Confirm diagnosis by enzyme deficiency (GALT) in heparinized whole blood or RBC
In classic form GALT is almost complete (0%)

120
Q

Mutation panel and sequence analysis of GALT

A

For classic (G/G) - panel of 6 common mutations
71%: two common mutations
10%: one common mutation and one private mutation
19%: two private mutations

121
Q

Clinical features of Galactosemia

A

Feeding problems/vomiting/diarrhea
Lethargy
FTT
Hypoglycemia
Liver failure/jaundice
Bleeding
Sepsis/shock
Females - increased risk for primary or secondary premature ovarian failure (75-96% before age 30)
DD/ID
Cataracts
Delayed growth
Speech apraxia

122
Q

Treatment for Galactosemia

A

Immediate dietary intervention for infants with GALT activity less than 10%
Begin formula that is lactose free
Calcium supplementation

123
Q

Defects in protein metabolism

A

PKU (maternal PKU, defects in biopterin)
Tyrosinemia
Alcaptonuria
Homocystinuria
Nonketotic hyperglycinemia

124
Q

PAH Deficiency

A

Phenylalanine hydroxylase

125
Q

Severe PAH deficiency

A

Classic PKU
Classic, moderate, and mild forms tolerate different levels of Phe in diet

126
Q

Maternal PKU

A

Poor control of plasma Phe levels during pregnancy adversely affects fetal development
Growth restriction
Microcephaly
Birth defects

127
Q

Diagnosis of PKU

A

Newborn screening

128
Q

Untreated PKU infants will

A

develop typically for first few months and then start showing symptoms
Seizures
Severe-profound ID
Microcephaly
Behavioral problems
Mousy odor (urine)
Very light skin and hair

129
Q

PKU geneitcs

A

PAH
AR

130
Q

Treatment of PKU

A

Diet
some Phe needed for normal growth/development
Avoidance of high-Phe foods (meat, fish, eggs-high protein foods)
Use of Phe-free formula as supplement (Tyrosine)
Phe restriction life long
Keep blood Phe 120-360 umol/L

131
Q

Biopterin Cofactor Deficiency Tetrahydrobiopterin (BH4)

A

2% of hyperphenylalaninemias

132
Q

Biopterin recycling defects

A

Dihydropteridine reductase (DHPR) deficiency
Pterin-4 acarbinolamine dehydratase (PCD) deficiency

133
Q

Biopterin synthesis defects

A

Guanosine triphosphate cyclohydrolase (GTPCH) deficiency
6-pyruvoyl tetrahydrobiopterin synthase (PTPS) deficiency

134
Q

Diagnosis for BH4

A

CHPR and biopterin in blood spot
Urine biopterins

135
Q

High neopterin, low biopterin

A

biopterin recycling defect

136
Q

low neopterin, low biopterin

A

pterin synthesis defect

137
Q

Urea cycle defects

A

Urea cycle rids body of waste nitrogen

138
Q

Waste nitrogen mostly from

A

amino acid metabolism

139
Q

Product of protein catabolism

A

Ammonia

140
Q

What organ conjugates waste nitrogen as ureea

A

Liver
Excreted by kidneys

141
Q

Inherited defect of urea cycle manifests as

A

elevated blood ammonia - toxic to brain

142
Q

Urea Cycle defects inside

A

Ornithine transcarbamylase (OTC) deficiency - one of few that is X-linked
Argininosuccinate synthetase deficiency - citrullinemia
Arginosuccinic aciduria - ASA lyase deficiency
Argininemia - Arginase deficiency

143
Q

Urea cycle defects outside

A

NAGS - secondary inhibition by organic acids
CPS - Carbamyl phosphate synthetase deficiency

144
Q

Urea Cycle defects treatment

A

Precursor and substrate restriction - dietary protein restriction
Provide/supplement deficient enzyme - liver transplant
Increase alternative pathway use - oral medications to help remove nitrogen via alternative mechanisms
Supplement products - citrulline or arginine supplementation

145
Q

Organic acidurias

A

Maple syrup urine disease (MSUD)
Isovaleric aciduria (IVA)
3-methyl crotonyl-CoA carboxylase (3MCC) deficiency
Methylmalonic acidemia (MMA)
Propionic aciduria (PA)
Glutaric acidemia, Type I (GA I)
Biotinidase deficiency

146
Q

Classical Organic acidurias features

A

Usually well at birth and for first few days
Toxic encephalopathy
Vomiting
Poor feeding
Hypotonia
Lethargy progressing to coma
Macrocephaly
Seizures
Metabolic acidosis - organic acids accumulate
Secondary hyperammonemia

147
Q

Cerebral organic acidurias features

A

Cerebral (neurological) symptoms without the typical metabolic/lactic acidosis and hypoglycemia

148
Q

Treatment of organic acidurias

A

Diet control - AA supplementation, AA avoidance, Carnitine supplementation
Emergency protocol - Carnitine supplementation increase during times of stress, avoidance of fasting (catabolic state)
Treatment is lifelong

149
Q

Unusual odors in urine

A

Maple syrup - MSUD
Cat urine (ammonia) - 3MCC deficiency
Sweaty feet - IVA
Mousy - PKU

150
Q

Fatty acids are released by

A

Lipoprotein lipase and hepatic lipase cleaving triglycerides, in endothelial cell and on surface of hepatocytes

151
Q

Triglycerides released from

A

fat cells

152
Q

Triglycerides convert to

A

glycerol and 3 fatty acids

153
Q

FAOD

A

Fatty acid oxidation disorder

154
Q

Mitochondria store energy in forms of

A

ATP from ADP and phosphate

155
Q

Defects of fat metabolism

A

VLCAD deficiency
LCHAD deficiency
Trifunctional protein (TFP) deficiency
MCAD deficiency
SCAD deficiency
Short chain L-3-Hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency - now 3-hydroxy acyl CoA dehydrogenase deficiency (HADH)
Electron transfer flavoprotein (ETF) dehydrogenase deficiency
3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)

156
Q

Carnitine disorders

A

Carnitine transport defect - main one
Carnitine-acylcarnitine translocase deficiency
Carnitine Palmitoyl Transferase I and II

157
Q

Clinical features of FAO defects

A

cause infant or childhood deaths, following minor illness with fasting
Affect multiple siblings in a family
Associated symptoms: hypoglycemia, coma, seizures, heart failure, muscle breakdown

158
Q

Treatment of FAO defects

A

dietary management

159
Q

MCAD deficiency

A

Gene ACADM
Common mutation - 985A>G, K304E - 90%
80% homozygous
1:40 carriers among Northern Europeans
Low plasma carnitine, high medium-chain acylcarnitines

160
Q

Symptoms of MCAD deficiency

A

Vomiting, lethargy, seizures, breathing difficulties, brain damage, coma, sudden death (from hypoketotic hypoglycemia when ill/fasting

161
Q

MCAD Treatment

A

Typical infant feeding
30% calories from fat
Supplement carnitine as needed
Avoidance of prolonged fasts
Understand chronic health needs

162
Q

Peroxisomal disorders

A

X-linked adrenoleukodystrophy (X-ALD) - Lorenzo’s Oil

163
Q

Porphyrias disorders

A

Defects in synthesis of heme
Can be acute (neurologic) or cutaneous (primarily affect skin)
Photosensitivity, mental disturbances, hepatic disease

164
Q

Purines and Pyrimidines disorders

A

Lesch-Nyhan Syndrome - X-link recessive, self-injurious behavior

165
Q

Metal metabolism disorders

A

Hemochromatosis - iron metabolism
Wilson disease - copper metabolism
Menkes disease - copper metabolism - X-linked characterized by sparse, kinky hair, FTT, and neurological sx

166
Q

Bone metabolism/mineralization disorders

A

Familial X-linked hypophosphatemic Rickets (XL dominant)
Hypophosphatasia (AR or AD)

167
Q

Cholesterol metabolism disorders

A

Smith-Lemli-Opitz Syndrome (SLOS)

168
Q

Congenital disorders of glycosylation (CDG) syndromes

A

Variable, umbrella term for disorders involving glycoproteins/glycolipids

169
Q

Goals of medical nutrition therapy

A

Promote healthy brain function - prevention of neurlogical damage d/t metabolic crises/decompensation, preserve cognition/intellect
Promote healthy physical growth and development - prevention of malnutrition or FTT, growth delay, poor bone health, support healthy weight and exercise

170
Q

Challenges of medical nutrition therapy (MNT)

A

Introduction of foods as patients age
Adherence to diet
Family member/caregiver compliance
Adolescence
Emergency situations

171
Q

Macronutrients

A

Carbs (glucose) - fuel brain/body, fiber
Protein (essential amino acids) - required for growth, cell repair, enzyme formation
Fats (EFS0: protection, temperature regulation, hormone regulation, energy

172
Q

Micronutrients

A

Vitamins (fat and water soluble) - hormones, enzymes, co-enzymes
Minerals (major and trace) - bone and tissue health

173
Q

Simple sugars

A

table sugar, jelly, candy, honey, syrup, fruit, fruit juice - quick sources of energy

174
Q

Complex carbs

A

Cereals, breads, grains, pasta, potatos, beans, corn, veggies - helps with prolonged glucose release

175
Q

Goals for carb disorders

A

avoid prolonged periods of fasting
Restrict the offending simple sugar
Provide adequate nutrients to promote normal growth and development
Prevent hypoglycemia which can progress to metabolic crisis, seizures, and death
Laboratory monitoring: lactic acid, uric acid, blood glucose

176
Q

GSD Type IA

A

Enzyme defect - Glucose-6-phosphate
Roadblock is final step of gluconeogenesis - glycogenolysis to release glucose - no internal source of glucose
Can store glycogen but can’t break it down
Uncontrolled leads to hypoglycemia, lactic acidosis, high uric acid, elevated TGs, cholesterol
Can progress to seizures and death

177
Q

Nutrition guidelines for GSD IA

A

High protein, low carb diet - restrict fructose (sucrose), limit lactose (galactose), sucrose and lactose free formula, consume complex carbs
Nighttime feedings
Limit fat, especially saturated fat
Possible G-tube
Dairy to one serving per day
Limit fats and choose mono-unsaturated fats
Multivitamin+calcium citrate supplementation
Avoid sucrose and fructose
Avoid sorbitol

178
Q

Tyrosinemia IA

A

Enzyme defect: hepatic fumarylacetoacetate hydrolase (FAH)
Buildup of succinylacetone which is toxic to the liver
needs dietary management and medication

179
Q

Essential FAs

A

Linoleic acid
Alpha-linolenic acid

180
Q

Medical food

A

food which is formulated to be consumed or administered entirely under supervision of physician and intended for specific dietary management of disease

181
Q

Dietary supplement

A

product taken by mouth that contains a dietary ingredient

182
Q

PKU

A

Body cannot metabolize essential AA, phenylalanine

183
Q

Criteria for NBS conditions

A

Wilson and Jungner criteria
condition should be important health problem
Natural history of condition should be well understood
Recognizable latent or early symptomatic stage
Suitable tst or examination
Test should be acceptable to population
Should be agreed upon policy on who to treat
Accepted treatment for patients with disease
Must have facilities for diagnosis and treatment
Cost of case-finding should be economically balanced in relation to possible expenditure on medical care as whole
Case finding should be continuing process

184
Q

Tandem mass spec

A

multiplex analysis of many different analytes

185
Q

NBS tests

A

heel prick
Cardiac screen
Hearing screen

186
Q

When is blood spot collected for NBS

A

24-48 hours after birth

187
Q

Steps after positive NBS

A

Diagnostic confirmation
Intervention
Medical management

188
Q

Sudden increase in CK, evidence of muscle breakdown, and urine that looks like cola

A

Rhabdomyolysis

189
Q

Cataracts, jaundice, vomiting, lethargy

A

Classic Galactosemia

MedGen (Personal) (12 decks)

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