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cm 1a: heme/onc/endo > Lecture 23: Metabolic Disorders > Flashcards

Lecture 23: Metabolic Disorders Flashcards

1
Q

How are most metabolic disorders inherited?

A

Autosomal recessive.

Exception: Fabry’s is X-linked.

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2
Q

What characterizes metabolic disorders?

A
  • Absence or abnormality of an enzyme or its cofactor.
  • Accumulation or deficiency in a specific metabolite.
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3
Q

What are the three primary products of carbohydrate metabolism?

A
  • Glucose
  • Galactose
  • Fructose
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4
Q

What is sorbitol an alcohol of?

A

Fructose

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5
Q

Where is glycogen stored in the body?

A
  • Liver
  • Muscle
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6
Q

What do glycogen storage disorders result in?

A

Accumulation of glycogen in the tissues due to a defect in metabolism.

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7
Q

What is the typical clinical presentation of a GSD in the liver?

A
  • Fasting hypoglycemia and ketosis that improves with eating.
  • Possible hepatomegaly
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8
Q

What is the typical clinical presentation of a GSD in the muscles?

A
  • Delayed growth in children
  • Exercise intolerance
  • Progressive weakness
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9
Q

What labs would we expect for a GSD pt?

A
  • Fasting hypoglycemia
  • Elevated LFTs and CPK
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10
Q

How do we generally manage a GSD?

A
  • Avoid hypoglycemia
  • Enzyme replacement for specific ones.
  • Symptomatic therapy
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11
Q

What are the 3 subtypes of fructosemia?

A
  • Deficiency of fructose 1,6-diphosphatase (FDPase)
  • Deficiency of fructose 1,6-biphosphatase aldolase (Aldolase B/Hereditary fructose intolerance)
  • Deficiency of fructokinase (Essential fructosuria)
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12
Q

What is the mechanism of FDPase deficiency and the result?

A

Mechanism: Conversion of Fructose 1,6-biphosphate to Fructose 6-phosphate.

Results in inadequate gluconeogenesis during periods of fasting.

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13
Q

How does a FDPase deficiency present clinically?

A
  • Hypoglycemia symptoms
  • Acidosis symptoms (buildup of lactate)
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14
Q

How do we manage FDPase deficiency?

A
  • Avoid fructose
  • Avoid fasting for too long
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15
Q

What is the effect of an aldolase B or fructose 1,6-biphosphatase aldolase deficiency?

A

Toxic accumulation of Fructose-1-phosphate in the Liver, Kidney and SI, causing cell death.

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16
Q

How does an Aldolase B deficiency present clinically?

A

Ingestion of fruit or sweetened cereal leads to…

  • Severe abdominal pain
  • Failure to thrive
  • Jaundice and hepatomegaly
  • Hypoglycemia
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17
Q

How do we diagnose and manage an aldolase B deficiency?

A

Genetic testing to diagnose.

Management includes complete avoidance of fructose and sucrose.

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18
Q

What is the most benign form of fructosemia?

A

Lack of fructokinase, aka essential fructosuria.

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19
Q

What is the pathophysiology of essential fructosuria?

A

Cannot convert fructose to anything, so you pee it out instead.

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20
Q

How do you manage essential fructosuria?

A

No management needed, as you will pee it out.

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21
Q

What causes galactosemia?

A

Autosomal recessive defect of chromosome 9p13.

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22
Q

What is galactosemia?

A

Toxic accumulation of galactose-related molecules due to an inability to metabolize it.

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23
Q

Where does galactose typically come from?

A
  • Milk
  • Baby formula
  • Celery, kiwi, plum, avocado, and figs.
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24
Q

What 3 enzyme deficiencies result in galactosemia?

A
  • Galactose-1-phosphate uridyl transferase (GALT), AKA Type 1 galactosemia, as it is the MC and severe.
  • Galactokinase (GALK), Type 2.
  • Galactose epimerase (GALE), Type 3.
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25
Q

How does Type 1, or classic galactosemia present clinically?

A
  • Normal at birth.
  • Within a few days of getting galactose, failure to thrive, vomiting, hepatomegaly, and jaundice can occur.
  • Within 2 weeks, buildup of galactitol can cause cataracts.
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26
Q

What is galactitol?

A

Unmetabolized galactose.

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27
Q

What is the primary clinical finding in Type 2 or GALK galactosemia?

A

Cataract formation.

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28
Q

How does Type 3 or GALE galactosemia typically present clinically?

A
  • Mild to classic galactosemia.
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29
Q

What lab value is elevated in a GALT deficiency? Decreased?

A
  • RBC galactose-1-phosphate elevated.
  • GALT enzyme activity depressed.
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30
Q

How do we manage galactosemia as a whole?

A
  • Minimizing dietary milk.
  • DC breastfeeding
  • Use soy-based formulas
  • Avoid dairy as they get older.
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31
Q

How do we manage galactosemia long-term?

A
  • Annual ophthalmologic exam.
  • CBC, LFTs, RBC galactose-1-phosphate
  • Females: LH, FSH, and estradiol starting at age 10. (Females tend to rely on dairy)
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32
Q

What causes PKU?

A

Autosomal recessive mutation of chromosome 12.

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33
Q

What enzyme is someone with PKU deficient in? What is the function of that enzyme?

A

Phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine

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34
Q

What does a buildup of phenylalanine in the brain result in?

A

Destruction of myelin covering individual nerve fibers.

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35
Q

Who is PKU MC in?

A

Caucasians and Native-Americans.

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36
Q

What is classic PKU?

A

Complete absence of PAH.

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37
Q

What kind of soda might contain phenylalanine?

A

Diet sodas

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38
Q

How does untreated PKU present clinically?

A
  • Light hair and skin
  • Neurologic dysfunction due to loss of myelin.
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39
Q

How do we diagnose PKU?

A
  • Newborn screening
  • Elevated serum phenylalanine
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40
Q

How do we manage PKU?

A
  • Avoid foods with phenylalanine.
  • Sapropterin to activate PAH to breakdown phenylalanine. (Kids/Adults)
  • Pegvaliase to degrade phenylalanine. (ADULT ONLY)
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41
Q

What is maple syrup urine disease?

A

Autosomal recessive disorder with a deficiency in the enzyme that breaks down BCAAs.

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42
Q

What 3 BCAAs are affected by maple syrup urine disease? (MSUD)

A
  1. Leucine
  2. Isoleucine
  3. Valine
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43
Q

What specific enzyme is MSUD deficient in?

A

Branched-chain ketoacid dehyrogenase complex (BCKDC)

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44
Q

What does excess leucine and isoleucine do to the body?

A
  • Excess leucine = neurological symptoms.
  • Excess isoleucine = maple syrup odor in urine, like burnt caramel.
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45
Q

What are the two types of maple syrup urine disease? (MSUD)

A
  • Classic MSUD: < 3% residual enzyme activity. (MC)
  • Non-classic MSUD: 3-30% residual enzyme activity.
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46
Q

How does classic MSUD tend to present?

A

Symptoms within 48hrs to 2 weeks (delayed by breastfeeding.)
* Irritability
* Poor feeding
* Seizures
* Cerebral edema
* Death

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47
Q

How does non-classic MSUD tend to present?

A

Delayed onset until childhood, exacerbated by physical stress.
Variable symptoms (Like in classic MSUD)

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48
Q

How do we manage MSUD?

A
  • Strict protein restriction using medical-grade formula/food.
  • Trial of thiamine supplement for 4 weeks. (some subtypes respond)
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49
Q

A patient with MSUD demonstrates rapid buildup of leucine. What is the immediate intervention to rapidly lower their leucine?

A

Hemodialysis

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50
Q

A patient with MSUD has just underwent hemodialysis for elevated leucine. What are the next steps in their management?

A
  1. D/C protein intake for 24-48h
  2. IV glucose (inhibits protein catabolism)
  3. IV insulin if BG > 130 (enhances protein synthesis)
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51
Q

When is a liver transplant indicated for MSUD?

A

Last resort for classic MSUD.

10% of BCKDC is found in the liver.

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52
Q

What is homocystinuria?

A

Dysfunction of methionine formation , which results in a buildup of homocysteine.

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53
Q

What is the main enzyme deficiency that results in homocystinuria?

A

Cystathionine beta-synthase

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54
Q

What are the classic symptoms associated with homocystinuria?

A
  • Failure to thrive
  • Dislocated optic lenses and mental retardation (MC)
  • Marfanoid habitus (very tall and thin)
  • MSK deformity with osteoporosis
  • Thromboembolic related symptoms.
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55
Q

What are the MSK deformities associated with homocystinuria?

A
  • Pes excavatum (sternum sunken in)
  • Pes carinatum (sternum protrudes out)
  • Genu valgum (Knees bent inward, knock knees)
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56
Q

How do we assess for homocystinuria?

A
  • Newborn screening (WV)
  • Elevated homocysteine and methionine in plasma or urine.
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57
Q

How do we manage homocystinuria?

A
  • Protein restriction
  • Vit B6, B12, folate supplements (convert homocysteine to methionine)
  • Betaine (convert homocysteine to methionine)

Methionine and homocysteine can be converted to one another.

58
Q

Where are lysosomes formed?

A

Formed in the golgi body.

59
Q

What are the 5 functions of lysosomes?

A
  • Exocytosis
  • Digest viruses and bacteria
  • Autolysis
  • Digest nutrients
  • Cell membrane repair
60
Q

What are the 5 lysosomal storage disorders and how are they classified?

A

Classified based on the material they store.

  1. Tay-sach’s disease
  2. Gaucher’s disease
  3. Fabry disease
  4. Niemann-pick disease
  5. Pompe disease
61
Q

What are lysosomal storage disorders?

A

Abnormalities in the biosynthesis of a lysosome, resulting in impaired enzyme activation.

62
Q

What is Tay-Sach’s disease?

A

Autosomal recessive, neurodegenerative disorder that comes from a mutation in hexosaminidase A (Hex A)

63
Q

What is the function of Hex A? What is the result of its dysfunction?

A
  • Breakdown of GM2 ganglioside (fatty substance)
  • Dysfunction results in a buildup of this, resulting in neuronal destruction in the CNS.
64
Q

What are the 3 subtypes of Tay-Sach’s?

A
  • Infantile
  • Juvenile
  • Adult onset
65
Q

What findings suggest infantile Tay-Sach’s?

A
  • First sign: Exaggerated startle/Moro reflex
  • Slowing of normal milestone development.
  • Gross motor delay
  • Seizures, vision loss, intellectual disability, etc
  • Cherry-red spot on fundoscopy (HALLMARK SIGN), due to GM2 ganglioside buildup in retinal ganglion cells.
66
Q

How do infants generally die from Tay-Sach’s?

A

Complications of pneumonia.

Life expectancy is 2-5 years only.

67
Q

What is the Tay Sach’s mnemonic?

A
  • Testing rec
  • Autosomal recessive
  • Young death (< 4)
  • Spot in macula (cherry-red)
  • Ashkenazi Jews
  • CNS Degeneration
  • Hex A deficiency
  • Storage disease
68
Q

How does Juvenile Tay Sach’s present?

A
  • Symptoms present typically at 2-5y
  • Hx of respiratory infections
  • Slower loss of mental and motor function
  • Progression to a state of unresponsiveness/unawareness for years prior to their death.
69
Q

What is death in Juvenile Tay-Sach’s usually caused by?

A

Infectious causes

Life expectancy of 10-15 years.

70
Q

How does adult-onset Tay Sach’s present?

A
  • Clumsiness in childhood
  • Progressive motor weakness
  • Dysarthria
  • Declining intelligence
  • Increasing mental health issues
71
Q

How is Tay-Sach’s screened for?

A
  • Genetic testing
  • Hex A/B Analysis, expecting low Hex A with normal/high Hex B.
72
Q

How is Tay-Sach’s treated?

A

Supportive care only. No effective treatment exists.

73
Q

What 3 ethnic groups are risk factors for Tay-Sach’s?

A
  • Ashkenazi Jews
  • French-Canadians
  • Cajuns
74
Q

What is Gaucher Disease a deficiency in?

A

Glucocerebrosidase (GCase), which breaks down its fatty chemical into glucose and ceramide (lipid/fat molecule)

75
Q

When are glucocerebrosides released?

A

Cell degradation; they come from the membranes.

76
Q

Where do glucocerebrosides accumulate? Effect?

A

Accumulation in Gaucher cells (macrophages), which then accumulate in the spleen, liver, bone marrow, and brain (Severe), causing chronic inflammation and fibrosis.

77
Q

What ethnic group is MC for Gaucher disease?

A

Ashkenazi Jews

78
Q

What are the 3 clinical subtypes of Gaucher Disease?

A
  • G1 (MC): slow progression, primarily bone involvement, no CNS involvement.
  • G2: early onset, aggressive, death by age 2. (grave by 2)
  • G3: early onset, medium aggression, CNS involvement still.
79
Q

What severe symptom is found in all Gaucher disease patients?

A

Bone crises.
* Localized excruciating pain
* Erythema
* Fever
* Leukocytosis
* Bone marrow infiltration by Gaucher cells, resulting in infarction.

80
Q

What is the hallmark diagnostic tool for Gaucher disease?

A

Low beta-glucosidase leukocyte activity.

81
Q

What confirms a diagnosis of Gaucher disease?

A

Genetic testing.
Also used to determine if someone is carrier.

82
Q

What histology description of a macrophage would suggest Gaucher disease?

A

Wrinkled tissue paper appearance

83
Q

How is Gaucher disease managed?

A
  • Enzyme replacement therapy (ERT) with recombinant GCase (imiglucerase), but cannot relieve CNS symptoms.
  • Substrate-reduction therapy (SRT) with eliglustat/miglustat, preventing the production of glucocerebrosides.
84
Q

What is Fabry disease?

A

Alpha galactosidase A (GLA) deficiency, leading to accumulation of globotriaosylceramide (GL3), fatty substance in blood vessels.

85
Q

What does a buildup of GL3 in Fabry disease result in?

A

Narrows blood vessels, leading to inadequate perfusion.

86
Q

What are the MC organs affected in Fabry disease?

A
  • Skin
  • Kidneys
  • Heart
  • CNS
87
Q

How is Fabry disease inherited?

A

X-linked recessive, so it is the only one more severe in males ):

88
Q

What is a classic skin finding on Fabry disease?

A

Angiokeratomas

89
Q

What are the classic findings associated with Fabry disease?

A
  • Hypo/anhidrosis (prone to overheating)
  • Corneal/len opacity
  • Acroparesthesia (fingers and toes usually)
  • Angiokeratomas
  • Progressive, small vessel disease in kidney, heart, and brain.
90
Q

What test is usually ordered to diagnose Fabry disease? What confirms it?

A
  • Decreased GLA enzyme activity.
  • Confirmed via genetic testing
91
Q

How is Fabry disease managed?

A
  • ERT (agalsidase beta)
  • Chaperone therapy: migalastat (adult), which increases GLA activity to prevent GL3 builup. (Chaperone to the gala)
  • Symptom control
  • Stroke prevention (AC)
92
Q

What is Niemann-pick disease? (NPD)

A
  • Deficiency of acid sphingomyelinase (ASM)
  • Accumulation of sphingomyelin in macrophages
  • Result: cell death and organ malfunction
93
Q

What description of macrophages under a microscope might suggest NPD?

A

“foam” cells with soap-suds appearance

94
Q

What are the 3 subtypes of NPD?

A
  • NPA (fastest onset, 2 year death)
  • NPB (medium onset, adolescent death)
  • NPC (medium onset, same as NPB + neurologic symptoms, death by aspiration pneumonia)
95
Q

Describe the clinical manifestations of NPA.

A
  • Rapid onset of 6 months post birth.
  • Rapid and progressive CNS deterioration
  • Death in 2 years.
96
Q

Describe the clinical manifestations of NPB.

A
  • Late childhood/adolescent onset
  • Progressive HSM and cirrhosis as liver cells are replaced by macrophages.
  • ILD (interstitial lung disease)
  • Death in late adolescence/early adulthood dt lung/liver failure

CXR will show lung scarring.

97
Q

Describe the clinical manifestations of NPC.

A
  • Onset: middle-late childhood with normal early development.
  • Liver, spleen, and/or lung (like NPB) + neurologic disease
  • Death 2/2 to aspiration pneumonia
98
Q

How is NPD screened for?

A
  • Newborn screening (not WV)
  • Genetic
99
Q

How is NPD managed?

A

Supportive only.

100
Q

What is Pompe disease?

A
  • Deficiency in acid alfa-glucosidase (GAA)
  • Accumulation of glycogen in lysosomes.
  • Results in degradation of glycogenolysis and tissue destruction.

Also classified as a glycogen storage disease.

101
Q

What are the 3 subtypes of Pompe disease?

A
  • Classic infantile-onset
  • Non-classic infantile onset
  • Late onset
102
Q

Describe the clinical presentation of classic infantile-onset Pompe disease.

A
  • Onset: Within a few months of birth.
  • Hypotonia
  • Myocardiopathy
  • HSM
  • Death prior to 1y.
103
Q

Describe the clinical presentation of non-classic infantile-onset Pompe disease.

A
  • Onset: 12 months post birth
  • Delayed motor skills
  • Progressive muscle weakness => respiratory dysfunction
  • Cardiomegaly with NO associated HF
  • Death by early childhood.
104
Q

Describe the clinical presentation of late-onset Pompe disease.

A
  • Onset: late childhood or later.
  • Low likelihood of cardiac involvement
  • Slowly progressive muscle weakness
  • Death usually due to respiratory failure later.
105
Q

How is Pompe disease diagnosed?

A
  • GAA enzyme levels decreased.
  • Confirmed via genetic testing.
  • Prenatal diagnosis can be done via DNA analysis, amniocentesis, or CV sampling.
106
Q

How is Pompe disease managed?

A
  • ERT: alglucosidase alfa (wary of antibody formation)
  • Monitor for gradual weakness, fractures, dysphagia, and sleep apnea.
107
Q

What 3 pathophysiologic processes result in hyperphosphatemia?

A
  • Increased phosphate intake
  • Decreased phosphate excretion (CKD MC)
  • Shift of intracellular phosphate to extracellular space (rhabdo and tumor lysis)
108
Q

What is the treatment for acute, severe, hyperphosphatemia?

A
  • CKD present: Hemodialysis
  • CKD not present: IV fluids
109
Q

How does hyperphosphatemia typically present?

A

Similar to hypocalcemia since it is most likely also present.

110
Q

For mild hyperphosphatemia, what is the treatment? Moderate/severe?

A
  • Mild: dietary restrictions, avoiding dairy, meat, and beans.
  • Mod/severe: phosphate binders (calcium acetate, lanthanum carbonate, sevelamer)
111
Q

When is calcium acetate indicated and how does it work?

A
  • Indicated for hyperphosphatemia for ESRD pts.
  • MOA: Chelates phosphate in intestines to make calcium phosphate, which is then pooped out.
112
Q

What drug does calcium acetate interact with?

A

Digitalis

113
Q

How does lanthanum carbonate work?

A

Binds with phosphate to prevent GI absorption.

114
Q

When is lanthanum carbonate not to be used?

A

Pregnancy, use the other 2 phosphate binders.

115
Q

When might sevelamer be preferred over the other 2 phosphate binders? Why?

A

Patients that have electrolyte abnormalities.
It is a polymeric binder than does not affect any Ca, Bicarb, or aluminum concentrations.

116
Q

If a patient is pregnant and prescribed sevelamer, what should they be counseled on?

A

Impairs absorption of fat-soluble vits and folic acid. May need additional supplementation

117
Q

What are the typical underlying causes that result in hypophosphatemia due to inadequate intake?

A
  • Intestinal malnutrition
  • Vit D Deficiency
  • Excessive use of antacids (Ca, Mg, Al)
118
Q

What is the MC of increased phosphate excretion resulting in hypophosphatemia?

A

Hyperparathyroidism

119
Q

What are the primary underlying causes of hypophosphatemia with extracellular shifts of phosphate?

A
  • Insulin shifting phosphate in DKA or refeeding syndrome.
  • Hungry bones syndrome
  • Acute respiratory alkalosis
120
Q

What level of phosphate is considered severely low? What symptoms might occur?

A

< 2mg/dL

  • Weakness, bone pain, muscle pain, rhabdo
  • HF
  • Focal neurologic deficits, seizures, AMS
121
Q

What is the treatment for hypophosphatemia?

A
  • Treat underlying disorder
  • 1-2g phosphate per day over 7-10 days.
  • Mild: Increase dietary phosphate (meat, dairy, beans)
  • Severe: Sodium or potassium phosphate supplements
122
Q

When are phosphate supplements CI’d?

A
  • Hyperphosphatemia
  • Renal failure
  • Hyperkalemia (> 4mg)
123
Q

Where is 99% of Mg found?

A

Intracellular/bone

124
Q

What is the normal range of Mg?

A

1.7-2.1 (very narrow)

125
Q

What might cause decreased intake of magnesium?

A
  • Alcohol abuse
  • Extended parenteral nutrition
  • A very bad diet
126
Q

What syndrome results in intracellular shifts of Mg?

A

Hungry Bones syndrome

127
Q

What is the MCC of hypomagnesemia?

A

GI loss (Vomiting)

128
Q

How do I check magnesium?

A

Serum magnesium (Not part of BMP)

129
Q

How does hypomagnesemia typically present?

A

Usually associated with hypokalemia or hypocalcemia.

Usually CV or CNS/PNS symptoms

130
Q

How do we manage hypomagnesemia?

A
  • Eat healthier
  • IV magnesium if severe (keep > 1)
  • Oral magnesium if mild/mod
  • Also replace Ca and K
131
Q

What is Paget’s disease?

A
  • Excessive bone resorption
  • Increased bone formation
132
Q

What are the two bone cells involved in bone formation?

A
  • Osteoclasts (crusher)
  • Osteoblasts (builders)
133
Q

Describe the bones of someone with Paget’s disease?

A
  • Larger
  • Weaker
  • Vascularized
  • Highly susceptible to fracture

Does not spread bone to bone.

134
Q

What bones are MC affected in Paget’s disease?

A

Axial skeleton bones

135
Q

What is the clinical presentation of Paget’s disease?

A
  • Bone pain (MC)
  • Osteoarthritis
  • Bony deformity
  • Excessive warmth due to excessive vascularity of bone
  • Neurologic complications (Hearing loss MC)
136
Q

How is bone pain often described?

A
  • Dull
  • Deep
  • Aching
  • Worse at night!
137
Q

What serum labs are elevated in Paget’s disease?

A
  • ALP
  • Bone specific ALP (BSAP), which increases with osteoblast activity
138
Q

What would an XRAY of someone with Paget’s disease show early on? Later on?

A
  • Early: Lytic lesions
  • Late: Lytic lesions and excessive bone formation (bowing)
Lack of uniform coloring.
139
Q

What scan can I order to assess the extent of Paget’s disease?

A

Radionucleotide bone scan

Shows where Paget’s is active.

Black is where it is active.
140
Q

What referrals does someone with Paget’s disease need?

A
  • Endocrinologist (Primary)
  • Orthopedist
141
Q

How do we manage Paget’s disease?

A
  • Bisphosphonates (prevent osteoCLAST activity)
  • NSAIDs (joint pain)
  • Calcium and Vit D supplements

Alendronate, ibandronate, risedronate, zoledronic acid

cm 1a: heme/onc/endo (28 decks)

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