Term
Hurler Syndrome
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
alpha-L-Iduronase is deficient
Dermatan Sulfate and Heparan Sulfate accumulate
Corneal clouding, mental retardation
Bone Marrow Tx before 18 months or Enzyme Replacement Therapy |
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Term
Hunter Syndrome
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Iduronate Sulfatase is deficient
Dermatan Sulfate and Heparan Sulfate accumulate
***No corneal clouding***, hepatosplenomegaly, mild mental retardation
Treatment is enzyme replacement therapy |
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Term
Tay-Sachs Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Most-severe
Beta-Hexosaminidase Alpha is deficient
Gangliosides (GM2) accumulate
***Cherry red spot on macula***
***Onion-shell inclusions*** |
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Term
Gaucher Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Beta-Glucosidase is def.
Glucosyl Ceramide (glucocerebroside) accumulates
Adult form shows no neurological damage, but hepatosplenomegaly and osteoporosis
Treatment is enzyme replacement therapy |
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Term
Fabry Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Most Common
Alpha-Galactosidase is def.
Globosides (or ceramide trihexoside) accumulate
Peripheral neuropathy and "bathing trunk distribution" |
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Term
Niemann-Pick Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Sphingomyelinase is def.
Sphingomyelin or sphingophospholipid accumulates and has "foamy cell" appearance
Type A is severe infantile form
Type B appears later in childhood
Cherry red spot on macula on retinal exam |
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Term
Pompe Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Lysosomal acid maltase (alpha 1->4 glucosidase) is def.
Glycogen accumulation in diff. tissues causes diff. problems
Treatment is enzyme replacement therapy |
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Term
I-Cell Disease
Def Enzyme?
Accumulated Substrate?
Symptoms? |
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Definition
Def. of many lysosomal enzymes, also of mannose 6-P marker
Glycosaminoglycans and sphingolipids accumulate in lysosomes and high amounts of lysosomal enzymes in blood
Patients have I cell inclusions in fibroblasts, also proptotic eyes, hepatosplenomegaly, gingival hypertrophy, short broad hands |
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Term
| Complete Beta-oxidation of 16C palmitic acid produces what? |
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Definition
| 8 Acetyl Coa, 7 FADH2, 7 NADH+ |
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Term
| What is Zellweger Syndrome? |
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Definition
| Is charaterized by defective peroxisomal biogenesis |
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Term
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Definition
Defect in alpha-oxidation
Def. of peroxisomal phytanyl CoA alpha-hydroxylase
Phytanate accumulates in tissues
Management is restriction of branched chain FAs |
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Term
| How is Atkins diet a ketogenic diet? |
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Definition
It is a high fat, low carb diet.
A low carb diet is ketogenic |
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Term
| What is a precursor of arachidonic acid? |
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Definition
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Term
| What is SLOS (Smith-Lemli-Opitz Syndrome)? |
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Definition
A genetic defect in cholesterol synthesis
Enzyme 7-dehydrocholesterol reductase is def. |
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Term
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Definition
| Low cholesterol stimulates release of regulatory SREBP protein from the ER, this increases transcription of HMG-CoA Reductase |
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Term
| What is the rate-limiting enzyme in bile acid synthesis? |
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Definition
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Term
| Bile acids are conjugate with what two amino acids to make bile salts? |
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Definition
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Term
| Treatments for cholethiasis? |
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Definition
Gall bladder removal
Give chenodeoxycholic acid (Chendiol)
Give methyl-tert-butyl ether
Disintegrate using shock waves |
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Term
| LPL needs what lipoprotein for activation? |
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Definition
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Term
| What is only apoprotein you find in LDL? |
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Definition
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Term
| Release of VLDL from liver needs what lipoprotein? |
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Definition
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Term
| Release of CMs from intestinal mucosal cells into lymph needs what lipoprotein? |
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| It competes with plasminogen to bind to fibrin and can decrease removal of blood clots? |
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Term
| LDL receptor recognizes what lipoprotein in LDL during endocytosis? |
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Definition
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Term
| What lipoprotein activates LCAT (PCAT)? |
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Definition
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Term
| What lipoprotein in needed for uptake of CM remnants and IDL? |
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Definition
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Term
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Definition
| Is due to defective cholesterol ABC transporter. Results in very low HDL levels. Children have ***orange tonsils***, coronary disease, and corneal opacities |
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Term
| Major end product of Nitrogen metabolism is? |
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Definition
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Term
| All the essential amino acids? |
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Definition
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Term
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Definition
| Inherited def.(deficiency) of cystine transporter |
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Term
| What is Hartnup's disease? |
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Definition
| Inherited defect in transport of neutral a.acids like tryptophan. Leads to increased excretion of tryptophan. Can also lead to pellagra due to NAD+ deficiency |
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Term
| What coenzyme is needed for alanine metabolism? |
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Definition
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Term
| Glucose-Alanine cycle is active during? |
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Definition
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Term
| Treatment for 2 types of PKU? |
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Definition
1) Avoid PHE (phenylalanine)
2) Give Sapropterin (synthetic form of BH4 or dihyrobiopterin) |
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Term
| What is Tyrosinemia Type 1? |
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Definition
Def. of fumaryl acetoacetate hydrolase
Liver and renal failure, ***cabbage like urine odor***,
Treatment: Can be difficult but try dietary restriction of Phe and Tyr |
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Term
| Treatment for Maple Syrup Urine Disease? |
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Definition
1.Dietary restriction of branched chain amino acids (leucine, lysine, valine)
2.Dietary supplementation of thiamine-PP (Vit B1) |
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Term
| Treatment for homocystinuria? |
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Definition
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Term
| From what amino acid is NO (nitric oxide) synthesized? |
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Definition
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Term
| From what amino acid is Serotonin and Melatonin produced? |
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Definition
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Term
| What is Pheochromocytoma? |
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Definition
Overproduction of catecholamines
Headaches, sweating, tachycardia, htn
Accumulation of catecholamines and urinary VMA (vanillyl mandelic acid) |
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Term
| What is Carcinoid Syndrome? |
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Definition
Tumor of serotonin producing cells
Increase 5-HIAA excretion in urine |
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Term
| Albinism is due to def. of what enzyme? |
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Definition
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Term
| In nucleotide formation, what is first nucleotide that is formed? |
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Definition
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Term
| What is rate-limiting enzyme in purine synthesis? |
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Definition
| Glutamine PRPP amidotransferase |
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Term
| What disease is due to a def. of HGPRT and causes orange crystals to appear in baby's diapers? |
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Definition
Lesch-Nylan Syndrome
Note: This does not affect Adenine |
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Term
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Definition
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Term
| How does allopurinol fix gout? |
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Definition
| It is a non-competitive inhibitor of xanthine oxidase |
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Term
| How does Colchicine treat gout? |
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Definition
Is a microtubule inhibitor
Improves symptoms but does not decrease serum uric acid levels |
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Term
| What two enzymes cause orotic aciduria? |
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Definition
It's in pyrimidine synthesis
Def. of orotate phosphoribosyl transferase or OMP decarboxylase
Dietary form is treated with uridine |
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