Enzyme def

Question 1

Child with mental retardation, seizures, eczema, Musty odor?

Answer 1

PKU= phenylalanine hydroxylase def

Rx: dec Phe + Increase Tyr

Question 2

Pt with dark connective tissue, black urine, arthralgia?

Answer 2

Alkaptonuria= Homogentisic acid oxidase def

Question 3

Pt with mental retardation, osteoporosis, Tall/long, Kyphosis, Downward lens, increased atherosclerosis?

Answer 3

Homocystinuria == Cystathionine synthase def or Homocystine methyltransferase def
Cysteine becomes Essential== Cant make it

Question 4

pt with recurrent staghron calculi?

Answer 4

Cystinuria = PCT transporter def

Rx: hydration or alkalinization

Question 5

pt with CNS defects and retardation. Unable to degrade Branched chain AAs?

Answer 5

Maple syrup urine dz (Ile, Leu, Val)

Question 6

pt with SEVERE fasting Hypoglycemia, Hepatomegaly (increased glycogen), and lactic acidosis?

Answer 6

Von Gierke dz == G6Pase def (needed for gluconeogenesis)

Question 7

Pt with hepatomegaly, hypotonia, cardiomegaly. death by heart failure?

Answer 7

Pompe’s == Lysosomal a-1,4-glucosidase def

Question 8

pt with mild hypoglycemia and no lactic acidosis?

Answer 8

Cori’s dz == Debranching enzyme def

Question 9

Pt with painful cramps and myoglobulinuria during exercise?

Answer 9

McArdle’s dz== Glycogen phosphorylase def

Question 10

pt with peripheral neuropathy, angiokeratomas, and CV/renal disease due to accumulation of Ceramide?

Answer 10

Fabry’s == a-galactosidase def

only XR

Question 11

Pt with Bone pain, Hepatosplenomegaly, aseptic necrosis of femur?

Answer 11

Gaucher’s == Glucocerebrosidase def

**Macrophages look like tissue paper

Question 12

Difference btwn Von Gierke and Gaucher?

Answer 12

Von Gierke= Glycogen dz (G6Pase def)
Gaucher= Lysosomal dz (bone pain)
BOTH have Hepatomegaly

Question 13

Pt with neurodegeneration (retardation), hepatosplenomegaly, Cherry-red spot on Macula?

Answer 13

Niemann pick == Sphingomyelinase def

• *FOAM cells**
• no man picks his nose with his “sphingier”

Question 14

pt with neurodegeneration, Cherry-red spot on macula, accumulation of G2 ganglioside, and no hepatosplenomegaly?

Answer 14

Tay-SaXhs == HeXosaminidase def

Onion skin lysosomes

Question 15

Pt with peripheral neuropathy, optic atrophy, and globoid cells?

Answer 15

Krabbe == Galactocerebrosidase def

Question 16

CNS & PNS demyelination, dementia, and ataxia due to accumulation of cerbroside sulfate?

Answer 16

Metachromatic leukodystrophy == Arylsulfatase def

Question 17

Pt with developmental delays, gargoylism, airway obstruction, corneal clouding, and hepatosplenomegaly?

Answer 17

Hurler’s== a-L- Iduronidase def

**accumulation of Heparan/dermatan sulfate

Question 18

Pt with weakness, hypotonia, hypoketotic, Hypoglycemic?

Answer 18

Carnitine def == Unable to transport LCFAs into mito

Question 19

What is required for FA Synthesis and breakdown?

Answer 19

SYnthesis == Citrate

Breakdown = Carnithine

Question 20

In prolonged starvation or DKA what happens to TCA cycle and gluconeogenesis?

Answer 20

In order to make glucose Oxaloacetate is used up which STALLS TCA cycle

Question 21

Galactocerebrosidase def?

Answer 21

Krabbe == peripheral neuropathy, optic atrophy

Question 22

Arylsulfastase def?

Answer 22

metachromatic leukodystrophy = Dementia/ ataxia

Question 23

HeXominadase def?

Answer 23

Tay Sachs == Neurodegeneration + cherry red spot + no hepatomegaly

Question 24

Sphingomyelinase def?

Answer 24

Neiman pick == neurodegeneration, cherry spot, hepatomegaly

Question 25

G6Pase def?

Answer 25

Von gierke == Hypoglycemia, hepatomegaly,

Question 26

Glucocerebrosidase def?

Answer 26

Gaucher == Bone pain + hepatomegaly

Question 27

a- galactosidase def?

Answer 27

Fabrys == neuropathy, angiokeratoma, CV

Question 28

a-1,4-glucosidase def?

Answer 28

Pompe == CV collapse

Question 29

Glycogen phosphorylase def?

Answer 29

McArdles == Cramps and myoglobinuria after exercise

Question 30

Cystathionine synthase def?

Answer 30

Homocystineuria == Tall/long, downward lens, retardation, atherosclerosis

Question 31

Homogentesic acid def?

Answer 31

Alkoptinuria = Black cartilage

Question 32

Phenylalanine hydroxylase def?

Answer 32

PKU = Musty odor

Question 33

Pt with High chylomicrons, TGs, and cholesterol who is at increased risk for Pancreatitis, Hepatosplenomegaly, xanthomsa but NOT atherosclerosis?

Answer 33

Hyper-chylomiconemia == Lipoprotein lipase def

Question 34

Pt with Tendon xnathomas, corneal arcus, and accelerated atherosclerosis?

Answer 34

Familial hypercholesterolemia == LDL receptor def | HIGH LDL/Cholesterol

Question 35

Pt with Very very High VLDL due to hepatic over production is at risk for what?

Answer 35

Pancreatitis == HyperTG

Question 36

Infant with failure to thrive, steatorrhea, acanthocytosis, ataxia, and night blindness. Biopsy of intestines shows lipid accumulation in enterocytes?

Answer 36

Abetalipoproteinemia == Lack of ApoB48 & B100 so cant secrete Chylomicrons or VLDLs

Question 37

Pt with ataxia, telangiectasias, and immunodeficiency?

Answer 37

Ataxia-telangietesia == DNA repair gene defect

Question 38

Pt with hypersensitivity to DNA cross linking agents which results in leukemia & aplastic anemia?

Answer 38

Fanconi's anemia == DNA repair defect

Question 39

Ceramide trihexose accumulation?

Answer 39

Fabrys=> a-galactosidase def Peripheral neuropathy, CV/Renal, angiokeratomas

Question 40

Glucocerebroside accumulation?

Answer 40

Gaucher => Glucocerebrosidase def Hepatosplenomegaly Aseptic Bone necrosis Tissue paper Macs

Question 41

Sphingomyelin accumulation?

Answer 41

``` Niemann-Pick => Sphingomyelinase def Neurodegeneration Cherry red spots Macula Hepatosplenomegaly FOAM cells ```

Question 42

GM2 ganglioside accumulation?

Answer 42

``` Tay-Sachs==> Hexominidase def Neurodegeneration Cherry red spot Macula No hepatomegaly Lysosomes with Onion skin ```

Question 43

Cerebroside sulfate accumulation?

Answer 43

Metachromatic leukodystrophy=> Arylsulfatase def CNS/PNS demyelination Ataxia Dementia

Question 44

Galactocerebroside accumulation?

Answer 44

Krabbe => Galactocerbrosidase def Peripheral neuropathy Optic atrophy Globoid cells

Question 45

Child with developmental delays, *Gingival Hyperplasia* coarse facial features, umbilical and aortic insufficiency?

Answer 45

I-cell dz = N-acetyglucosamine 1-P def * * Lysosomal enzymes lack Mannose 6-P residues targeting them to lysosome so they are secreted instead * *Lysosomes accumulate debris = Inclusions

Question 46

Pt with severe pain in extremities, skin lesions (angiokeratomas), ischemic infarction to kidneys, heart, and brain has an accumulation of what?

Answer 46

Fabry's== Glycolipids | **Galactosidase def

Question 47

Pt with spasticity, hypertonia, hyperreflexia, decerbrate posturing due to accumulation of Glycolipids in the brain. What is the pgs of this dz?

Answer 47

Krabbe ==> Galactocerebrosidase def | **Glycolipid accumulation Destroys Oligodendrocytes