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FA genetics/ Biochem > Enzyme def > Flashcards

Enzyme def Flashcards

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1
Q

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

A

PKU= phenylalanine hydroxylase def

Rx: dec Phe + Increase Tyr

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2
Q

Pt with dark connective tissue, black urine, arthralgia?

A

Alkaptonuria= Homogentisic acid oxidase def

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3
Q

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

A

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

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4
Q

pt with recurrent staghron calculi?

A

Cystinuria = PCT transporter def

Rx: hydration or alkalinization

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5
Q

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

A

Maple syrup urine dz (Ile, Leu, Val)

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6
Q

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

A

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

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7
Q

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

A

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

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8
Q

pt with mild hypoglycemia and no lactic acidosis?

A

Cori’s dz == Debranching enzyme def

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9
Q

Pt with painful cramps and myoglobulinuria during exercise?

A

McArdle’s dz== Glycogen phosphorylase def

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10
Q

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

A

Fabry’s == a-galactosidase def

only XR

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11
Q

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

A

Gaucher’s == Glucocerebrosidase def

**Macrophages look like tissue paper

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12
Q

Difference btwn Von Gierke and Gaucher?

A

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

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13
Q

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

A

Niemann pick == Sphingomyelinase def

  • *FOAM cells**
  • no man picks his nose with his “sphingier”
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14
Q

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

A

Tay-SaXhs == HeXosaminidase def

Onion skin lysosomes

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15
Q

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

A

Krabbe == Galactocerebrosidase def

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16
Q

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

A

Metachromatic leukodystrophy == Arylsulfatase def

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17
Q

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

A

Hurler’s== a-L- Iduronidase def

**accumulation of Heparan/dermatan sulfate

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18
Q

Pt with weakness, hypotonia, hypoketotic, Hypoglycemic?

A

Carnitine def == Unable to transport LCFAs into mito

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19
Q

What is required for FA Synthesis and breakdown?

A

SYnthesis == Citrate

Breakdown = Carnithine

20
Q

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

A

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

21
Q

Galactocerebrosidase def?

A

Krabbe == peripheral neuropathy, optic atrophy

22
Q

Arylsulfastase def?

A

metachromatic leukodystrophy = Dementia/ ataxia

23
Q

HeXominadase def?

A

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

24
Q

Sphingomyelinase def?

A

Neiman pick == neurodegeneration, cherry spot, hepatomegaly

25
Q

G6Pase def?

A

Von gierke == Hypoglycemia, hepatomegaly,

26
Q

Glucocerebrosidase def?

A

Gaucher == Bone pain + hepatomegaly

27
Q

a- galactosidase def?

A

Fabrys == neuropathy, angiokeratoma, CV

28
Q

a-1,4-glucosidase def?

A

Pompe == CV collapse

29
Q

Glycogen phosphorylase def?

A

McArdles == Cramps and myoglobinuria after exercise

30
Q

Cystathionine synthase def?

A

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

31
Q

Homogentesic acid def?

A

Alkoptinuria = Black cartilage

32
Q

Phenylalanine hydroxylase def?

A

PKU = Musty odor

33
Q

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

A

Hyper-chylomiconemia == Lipoprotein lipase def

34
Q

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

A

Familial hypercholesterolemia == LDL receptor def

HIGH LDL/Cholesterol

35
Q

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

A

Pancreatitis == HyperTG

36
Q

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

A

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

37
Q

Pt with ataxia, telangiectasias, and immunodeficiency?

A

Ataxia-telangietesia == DNA repair gene defect

38
Q

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

A

Fanconi’s anemia == DNA repair defect

39
Q

Ceramide trihexose accumulation?

A

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

40
Q

Glucocerebroside accumulation?

A

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

41
Q

Sphingomyelin accumulation?

A 
Niemann-Pick => Sphingomyelinase def 
Neurodegeneration
Cherry red spots Macula
Hepatosplenomegaly
FOAM cells
42
Q

GM2 ganglioside accumulation?

A 
Tay-Sachs==> Hexominidase def
Neurodegeneration
Cherry red spot Macula
No hepatomegaly
Lysosomes with Onion skin
43
Q

Cerebroside sulfate accumulation?

A

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

44
Q

Galactocerebroside accumulation?

A

Krabbe => Galactocerbrosidase def
Peripheral neuropathy
Optic atrophy
Globoid cells

45
Q

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

A

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
46
Q

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

A

Fabry’s== Glycolipids

**Galactosidase def

47
Q

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

A

Krabbe ==> Galactocerebrosidase def

**Glycolipid accumulation Destroys Oligodendrocytes

FA genetics/ Biochem (10 decks)

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