Unit 3

Question 1

Hyperhomocysteinemia

Answer 1

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

Question 2

Homocysteinuria

Answer 2

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

Question 3

Cysteinuria

Answer 3

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

Question 4

Kid with recurrent infections and low lymphocytes

Answer 4

SCID

-ADA deficiency (purine degradation/salvation)

Question 5

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

Answer 5

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)

Question 6

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

Answer 6

Lesch-Nyhan Syndrome

-HGPRT deficiency (purine salvation)

Question 7

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

Answer 7

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

Question 8

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

Answer 8

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

Question 9

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

Answer 9

Homocystinuria

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

Question 10

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

Answer 10

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)

Question 11

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

Answer 11

Tyrosinemia II

• 4-OH phenylpyruvic acid dehydrogenase deficiency -> high tyrosine
• Treat with limited protein diet

Question 12

• 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

Answer 12

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

Question 13

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

Answer 13

Gaucher I

-AR

Question 14

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

Answer 14

Tay Sachs

-AR

Question 15

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

Answer 15

Fabry Disease

-X-linked (M>F)

Question 16

• Infant with progressive muscle weakness and severe LVH

- Adult with sleep apnea and proximal muscle weakness

Answer 16

Pompe Disease

• AR
• increased CK
• increased glycogen on muscle biopsy

Question 17

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

Answer 17

Hunter Disease

-mucopolysaccharidosis

Question 18

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

Answer 18

Hurler Disease

-mucopolysaccharidosis

Question 19

Severe Acute Malnutrition

Answer 19

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

Question 20

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

Answer 20

Underweight

Question 21

Child: more than 2 SD below mean for length

Answer 21

Stunting

Question 22

Child: decreased weight relative to length

Answer 22

Wasting

Question 23

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

Answer 23

Sarcopenia

Question 24

Adult: wasting due to severe chronic illness

Answer 24

Cachexia

Question 25

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.

Answer 25

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

Question 26

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.

Answer 26

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

Question 27

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

Answer 27

Vitamin A Deficiency (Retinol)

Question 28

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

Answer 28

Thiamine (B1) Deficiency | -Beriberi/Wernicke Korsakoff

Question 29

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

Answer 29

Riboflavin (B2) Deficiency

Question 30

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

Answer 30

Niacin (B3) Deficiency - Pellagra = "4D's" = Diarrhea, Dermatitis, Dementia, and Death - VERY TESTABLE

Question 31

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

Answer 31

Peridoxime (B6) Deficiency

Question 32

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

Answer 32

Cobalamine (B12) Deficiency - Vegan mothers - Pernicious Anemia - Metabolism associated with Folate

Question 33

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

Answer 33

Folate (B9) Deficiency | -Reversible symptoms unless teratogenic

Question 34

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

Answer 34

Vitamin C Deficiency | -Scurvy

Question 35

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

Answer 35

Vitamin D Deficiency | -Rickett's

Question 36

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

Answer 36

Vitamin E Deficiency

Question 37

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

Answer 37

Vitamin K Deficiency | -Factors 10, 9, 7, and 2

Question 38

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

Answer 38

Iron Deficiency

Question 39

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

Answer 39

Zinc Deficiency | -Commonly occurs with iron deficiency