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DEMS > Unit 3 > Flashcards

Unit 3 Flashcards

1
Q

Hyperhomocysteinemia

A
  • decreased folate, B6, and B12
  • can lead to vascular disease
  • cysteine becomes essential
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2
Q

Homocysteinuria

A
  • defect in cystothionine beta synthase
  • > accumulation of homocysteine
  • intellectual disability, osteoporosis, and vascular disease
  • Cysteine is essential
  • Treat with B6
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3
Q

Cysteinuria

A
  • defect in the transporter of cysteine
  • > crystals -> kidney stones -> renal failure
  • treat with acetazolamide
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4
Q

Kid with recurrent infections and low lymphocytes

A

SCID

-ADA deficiency (purine degradation/salvation)

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5
Q

Patient with swollen, painful, warm, red big toe (or other joint)

A

Gout

  • overproduction of purines/underexcretion of uric acid -> high levels of uric acid -> deposition of crystals in joint
  • Allopurinol works by blocking Xanthine Oxidase (purine degradation)
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6
Q

Male child with self-mutilation, aggression, odd movements, msk pain, and kidney problems

A

Lesch-Nyhan Syndrome

-HGPRT deficiency (purine salvation)

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7
Q

Baby with hypopigmented skin, eczema, intellectual disability, decreased growth, and musty smell

A

PKU

  • AR inheritance
  • Lack of phenylalanine hydroxylase or tetrahydrobiopterin (BH4) -> increased phenylalanine -> increased phenyl ketones and decreased tyrosine
  • TX: restrict protein diet or sapropropterin in some patients
  • teratogenic
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8
Q

Amish newborn with vomiting, poor feeding, irritability, possible encephalopathy/CNS problems, and “sweet” smell

A

MSUD

  • AR
  • deficiency in branched chain alpha-ketoacid dehydrogenase -> degradation of branched AAs (leucine, isoleucine, and valine) -> alpha-ketoacidosis
  • Acute or chronic…chronic = limited protein diet, thiamine supplement, possible domino liver transplant
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9
Q

Child with developmental delays, scoliosis, pectus carinatum, osteoporosis, lens dislocation, and increased risk for thrombosis

A

Homocystinuria

  • AR
  • Cystathionine synthase deficiency -> accumulate homocysteine
  • Diagnosed by homocysteine in urine
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10
Q

Acute liver failure in infancy, increased risk of HCC, and possible acute neurological crisis with abdominal pain and neuropathy

A

Tyrosinemia I

  • Deficiency in fumarylacetoacetate hydrosylase -> accumulation of tyrosine
  • Diagnosed by succinylacetone in urine
  • Treat with NTBC which converts it from type I to type III (milder)
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11
Q

Not acute, child with corneal opacities, and palmoplantar hyperkeratosis/keratitis

A

Tyrosinemia II

  • 4-OH phenylpyruvic acid dehydrogenase deficiency -> high tyrosine
  • Treat with limited protein diet
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12
Q
  • Acute: kid with encephalopathy, seizure, ataxia, vision loss, hallucinations, mania, +/- vomiting (infants can also have temperature instability and hyperventilation)
  • Chronic: kid with developmental delay, nausea, FTT, protein avoidance, migraines, anxiety, depression, disinhibition, increased LFTs, and hepatomegaly
A

Hyperammonemia

  • urea cycle disorders
  • Triggers: sick, stress, post-partum, menarche, intense exercise, dietary protein load, meds, or UTI

A SPECIFIC EXAMPLE: Ornithine Transcarbamylase Deficiency

  • X-linked recessive (often lethal in newborn males & symptomatic in females)
  • OTC deficiency -> urea cycle problem
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13
Q

Adult (Ashkenazi Jew) with fatigue, bone pain, and splenomegaly. Labs include anemia and thrombocytopenia. Xray shows Erlenmeyer Flask femur.

A

Gaucher I

-AR

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14
Q

Baby (Ashkenazi Jew) dies after 6 months of blindness, seizures, decreased mental/motor function, increased startle response, and cherry red spots on exam.

A

Tay Sachs

-AR

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15
Q
  • Teen with acroparasthesias and angiokeratomas in bathing suit distribution.
  • Adult with renal failure/proteinuria
  • Older Adult with LVH/stroke
A

Fabry Disease

-X-linked (M>F)

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16
Q
  • Infant with progressive muscle weakness and severe LVH

- Adult with sleep apnea and proximal muscle weakness

A

Pompe Disease

  • AR
  • increased CK
  • increased glycogen on muscle biopsy
17
Q

Male child with coarse facies, short stature, hepatosplenomegaly, frequent ear infections, hoarse voice, airway disease, and no corneal clouding

A

Hunter Disease

-mucopolysaccharidosis

18
Q

Female (could be male, but not on exam) child with coarse facies, airway disease, frequent ear infections, hepatosplenomegaly, hoarse voice, hearing loss, and corneal clouding

A

Hurler Disease

-mucopolysaccharidosis

19
Q

Severe Acute Malnutrition

A
  • chronic and cumulative failure to meet energy nutrient requirement
  • AKA PEM
20
Q

Child: weight and length less than 2 SD from mean or below 3rd percentile

A

Underweight

21
Q

Child: more than 2 SD below mean for length

A

Stunting

22
Q

Child: decreased weight relative to length

A

Wasting

23
Q

Geriatric male with constant or decreased BMI, but replacement of fat for muscle

A

Sarcopenia

24
Q

Adult: wasting due to severe chronic illness

A

Cachexia

25
Q

Child with severe wasting, significant muscle and fat loss, no edema, and no hepatomegaly. Labs include decreased insulin, decreased TSH, and increased CRH. Could also have hypothermia, hypotension, bradycardia, and decreased CO.

A 
Marasimus
-use fat stores
-minimize muscle wasting
-decrease metabolic rate
=normal response to starvation
26
Q

Child with edematous wasting, less weight loss due to fluid retention, some muscle and fat loss, psychiatric changes, hepatomegaly, “flaky paint” skin lesions, and hair changes. Labs include hypoalbuminemia and increased insulin.

A

Kwashiorkor
-protein deficiency with adequate energy, metabolite stress, and micronutrient deficiency
=abnormal response to starvation
-increased FA synthesis in liver

27
Q

Nutrient Deficiency: Not eating veggies or dairy. Have skin and eye findings.

A

Vitamin A Deficiency (Retinol)

28
Q

Nutrient Deficiency: Not eating grains, meat, or dairy. Neuro symptoms and CHF.

A

Thiamine (B1) Deficiency

-Beriberi/Wernicke Korsakoff

29
Q

Nutrient Deficiency: Not eating grains, meat, or dairy. Mouth lesions.

A

Riboflavin (B2) Deficiency

30
Q

Nutrient Deficiency: Not eating grains, meat, or dairy. Rash that is worse in the sun, diarrhea, and memory problems.

A

Niacin (B3) Deficiency

  • Pellagra = “4D’s” = Diarrhea, Dermatitis, Dementia, and Death
  • VERY TESTABLE
31
Q

Nutrient Deficiency: Not eating grains, meat, or dairy. Mouth lesions, neuro symptoms, and anemia.

A

Peridoxime (B6) Deficiency

32
Q

Nutrient Deficiency: Not eating meat or dairy (Vegan). Macrocytic anemia and neurological symptoms which can be irreversible if left untreated long enough.

A

Cobalamine (B12) Deficiency

  • Vegan mothers
  • Pernicious Anemia
  • Metabolism associated with Folate
33
Q

Nutrient Deficiency: Not eating veggies or legumes. Mouth lesions and anemia. If a newborn could have neural tube defects.

A

Folate (B9) Deficiency

-Reversible symptoms unless teratogenic

34
Q

Nutrient Deficiency: Not eating fruits or veggies. Rash, bleeding gums, decreased immunity.

A

Vitamin C Deficiency

-Scurvy

35
Q

Nutrient Deficiency: Not getting enough sun or eating fish, eggs, milk, or orange juice. Or infants exclusively breast fed. Bowed legs and widened wrists.

A

Vitamin D Deficiency

-Rickett’s

36
Q

Nutrient Deficiency: Not eating nuts, fruits, or veggies. Loss of reflexes and anemia.

A

Vitamin E Deficiency

37
Q

Nutrient Deficiency: Not eating leafy greens, soy, or canola oil. Bruising, easier bleeding, and mouth lesions.

A

Vitamin K Deficiency

-Factors 10, 9, 7, and 2

38
Q

Nutrient Deficiency: Not eating red meat, greens, legumes, or fortified grains. Microcytic anemia and neurological symptoms.

A

Iron Deficiency

39
Q

Nutrient Deficiency: Not eating meat or fish. Horrible rashes.

A

Zinc Deficiency

-Commonly occurs with iron deficiency

DEMS (1 decks)

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