Enzyme def Flashcards
Child with mental retardation, seizures, eczema, Musty odor?
PKU= phenylalanine hydroxylase def
Rx: dec Phe + Increase Tyr
Pt with dark connective tissue, black urine, arthralgia?
Alkaptonuria= Homogentisic acid oxidase def
Pt with mental retardation, osteoporosis, Tall/long, Kyphosis, Downward lens, increased atherosclerosis?
Homocystinuria == Cystathionine synthase def or Homocystine methyltransferase def
Cysteine becomes Essential== Cant make it
pt with recurrent staghron calculi?
Cystinuria = PCT transporter def
Rx: hydration or alkalinization
pt with CNS defects and retardation. Unable to degrade Branched chain AAs?
Maple syrup urine dz (Ile, Leu, Val)
pt with SEVERE fasting Hypoglycemia, Hepatomegaly (increased glycogen), and lactic acidosis?
Von Gierke dz == G6Pase def (needed for gluconeogenesis)
Pt with hepatomegaly, hypotonia, cardiomegaly. death by heart failure?
Pompe’s == Lysosomal a-1,4-glucosidase def
pt with mild hypoglycemia and no lactic acidosis?
Cori’s dz == Debranching enzyme def
Pt with painful cramps and myoglobulinuria during exercise?
McArdle’s dz== Glycogen phosphorylase def
pt with peripheral neuropathy, angiokeratomas, and CV/renal disease due to accumulation of Ceramide?
Fabry’s == a-galactosidase def
only XR
Pt with Bone pain, Hepatosplenomegaly, aseptic necrosis of femur?
Gaucher’s == Glucocerebrosidase def
**Macrophages look like tissue paper
Difference btwn Von Gierke and Gaucher?
Von Gierke= Glycogen dz (G6Pase def)
Gaucher= Lysosomal dz (bone pain)
BOTH have Hepatomegaly
Pt with neurodegeneration (retardation), hepatosplenomegaly, Cherry-red spot on Macula?
Niemann pick == Sphingomyelinase def
- *FOAM cells**
- no man picks his nose with his “sphingier”
pt with neurodegeneration, Cherry-red spot on macula, accumulation of G2 ganglioside, and no hepatosplenomegaly?
Tay-SaXhs == HeXosaminidase def
Onion skin lysosomes
Pt with peripheral neuropathy, optic atrophy, and globoid cells?
Krabbe == Galactocerebrosidase def
CNS & PNS demyelination, dementia, and ataxia due to accumulation of cerbroside sulfate?
Metachromatic leukodystrophy == Arylsulfatase def
Pt with developmental delays, gargoylism, airway obstruction, corneal clouding, and hepatosplenomegaly?
Hurler’s== a-L- Iduronidase def
**accumulation of Heparan/dermatan sulfate
Pt with weakness, hypotonia, hypoketotic, Hypoglycemic?
Carnitine def == Unable to transport LCFAs into mito
What is required for FA Synthesis and breakdown?
SYnthesis == Citrate
Breakdown = Carnithine
In prolonged starvation or DKA what happens to TCA cycle and gluconeogenesis?
In order to make glucose Oxaloacetate is used up which STALLS TCA cycle
Galactocerebrosidase def?
Krabbe == peripheral neuropathy, optic atrophy
Arylsulfastase def?
metachromatic leukodystrophy = Dementia/ ataxia
HeXominadase def?
Tay Sachs == Neurodegeneration + cherry red spot + no hepatomegaly
Sphingomyelinase def?
Neiman pick == neurodegeneration, cherry spot, hepatomegaly
G6Pase def?
Von gierke == Hypoglycemia, hepatomegaly,
Glucocerebrosidase def?
Gaucher == Bone pain + hepatomegaly
a- galactosidase def?
Fabrys == neuropathy, angiokeratoma, CV
a-1,4-glucosidase def?
Pompe == CV collapse
Glycogen phosphorylase def?
McArdles == Cramps and myoglobinuria after exercise
Cystathionine synthase def?
Homocystineuria == Tall/long, downward lens, retardation, atherosclerosis
Homogentesic acid def?
Alkoptinuria = Black cartilage
Phenylalanine hydroxylase def?
PKU = Musty odor
Pt with High chylomicrons, TGs, and cholesterol who is at increased risk for Pancreatitis, Hepatosplenomegaly, xanthomsa but NOT atherosclerosis?
Hyper-chylomiconemia == Lipoprotein lipase def
Pt with Tendon xnathomas, corneal arcus, and accelerated atherosclerosis?
Familial hypercholesterolemia == LDL receptor def
HIGH LDL/Cholesterol
Pt with Very very High VLDL due to hepatic over production is at risk for what?
Pancreatitis == HyperTG
Infant with failure to thrive, steatorrhea, acanthocytosis, ataxia, and night blindness. Biopsy of intestines shows lipid accumulation in enterocytes?
Abetalipoproteinemia == Lack of ApoB48 & B100 so cant secrete Chylomicrons or VLDLs
Pt with ataxia, telangiectasias, and immunodeficiency?
Ataxia-telangietesia == DNA repair gene defect
Pt with hypersensitivity to DNA cross linking agents which results in leukemia & aplastic anemia?
Fanconi’s anemia == DNA repair defect
Ceramide trihexose accumulation?
Fabrys=> a-galactosidase def
Peripheral neuropathy,
CV/Renal,
angiokeratomas
Glucocerebroside accumulation?
Gaucher => Glucocerebrosidase def
Hepatosplenomegaly
Aseptic Bone necrosis
Tissue paper Macs
Sphingomyelin accumulation?
Niemann-Pick => Sphingomyelinase def Neurodegeneration Cherry red spots Macula Hepatosplenomegaly FOAM cells
GM2 ganglioside accumulation?
Tay-Sachs==> Hexominidase def Neurodegeneration Cherry red spot Macula No hepatomegaly Lysosomes with Onion skin
Cerebroside sulfate accumulation?
Metachromatic leukodystrophy=> Arylsulfatase def
CNS/PNS demyelination
Ataxia
Dementia
Galactocerebroside accumulation?
Krabbe => Galactocerbrosidase def
Peripheral neuropathy
Optic atrophy
Globoid cells
Child with developmental delays, Gingival Hyperplasia coarse facial features, umbilical and aortic insufficiency?
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
Pt with severe pain in extremities, skin lesions (angiokeratomas), ischemic infarction to kidneys, heart, and brain has an accumulation of what?
Fabry’s== Glycolipids
**Galactosidase def
Pt with spasticity, hypertonia, hyperreflexia, decerbrate posturing due to accumulation of Glycolipids in the brain. What is the pgs of this dz?
Krabbe ==> Galactocerebrosidase def
**Glycolipid accumulation Destroys Oligodendrocytes
