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77 Cards in this Set
- Front
- Back
Cause of albinism
|
Defect tyrosinase in melanocytes
(Still functional in nerve cells - tyrosine hydroxylase) |
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Cause of phenylketonuria
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Defect phenylalanine hydroxylase
|
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Clinical PKU
|
MR
Hypopigmentation Musty odor |
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Cause Alkaptonuira
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Defect homogentisate oxidase
|
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Cause of maple syrup disease
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Defect in branched chain decarboxylase
|
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Clinical maple syrup disease
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Hyperreflexia
Sweet odor urine |
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Cause homocystinuria
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Defect cystathionine synthase
|
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Clinical homocystinuria
|
MR
Lens dislocation |
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Cause Cystinuria
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Defect in dibasic amino acid transporter
|
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Cause Hartnup disease
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Defect neutral amino acid transporter
|
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Clinical Hartnup disease
|
Tryptophan deficiency --> Niacin deficiency --> Pellagra
(Dermatitis, Dementia, Diarrhea) |
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Essential amino acid in pt w/ PKU
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Tyrosine
|
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What is not a reducing sugar
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Sucrose
(Are reducing sugars - glu, gal, fruc) |
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Hexokinase: Location, Affinity, Vmax?
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Muscle
High affinity Low Vmax (Inhibited by G6P) |
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Glucokinase: Location, affinity, Vmax?
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Liver
Low affinity High Vmax (Not inhibited by G6P) |
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What disaccharide - Glu + Glu
|
Maltose
(alpha 1-4 bond) |
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What disaccharide - Glu + Gal
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Lactose
(Beta 1-4 bond) |
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What disaccharide - Glu + Fruc
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Sucrose
(alpha1-beta2 bond) |
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What bond cannot be hydrolyzed by humans?
|
Beta 1-4 bond
(Cellulose) |
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Defect in Fructokinase causes what d/o? Clinical?
|
Fructosuria
Benign & asymptomatic |
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Defect in Aldolase B causes what d/o? Clinical?
|
Fructose intolerance
Hypoglycemia Liver failure |
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Defect in uridyltransferase causes what d/o? Clinical?
|
Galactosemia
Cataracts MR |
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Defect in Lactase causes what d/o? Clinical?
|
Lactose intolerance
Diarrhea |
|
Pathway of Fructose metabolism
|
Fructose --> F1P --> (glyceraldehyde or dihydroxyactone)
1st rxn: fructokinase 2nd rxn: aldolase |
|
F1P builds up from defective ____, causes?
|
aldolase
accumulates in Liver (inhibits glycogenolysis, GNG) --> hypoglycemia |
|
Pathway of galactose metabolism
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Galactose --> (galactitol or galactose-1-P) --> UDP-galactose
1st rxn: galactokinase 2nd rxn: uridyltransferase |
|
Which enzyme in galactose metabolism is more commonly defective?
|
Uridyltransferase
**Tested for in newborn screening** |
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Defective enzyme in Von Gierke disease
|
Glucose-6-phosphatase
-G6P --> glucose - (G6P cannot cross cell membranes) |
|
Clinical Von Gierke disease
|
Enlarged liver & kidneys
Fasting hypoglycemia Acidosis FTT |
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Defective enzyme in Pompe disease
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alpha-glucosidase (lysosomes)
-degrades glycogen - |
|
Clinical Pompe disease
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Affects all organs
Muscle hypotonia Cardiac failure Death by 2 yo |
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Defective enzyme in McArdle disease
|
Sk m. glycogen phosphorylase
-cleaves alpha 1-4 bonds & releases G1P for usage |
|
Clinical McArdle disease
|
Exercise: muscle pain & cramps
Progressive m. weakness |
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What enzyme does skeletal m. not have; therefore, cannot release glucose into circulation
|
Glucose-6-phosphatase
|
|
Metabolism of glycogen
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Glycogen --> G1P --> G6P --> glucose
1st rxn: phosphorylase 2nd rxn: glucomutase 3rd rxn: glucose-6-phosphatase |
|
Mutation in alpha-L Iduronidase causes what diseases
|
-Hurler
-Scheie (different mutations in same enzyme) |
|
Differentiate b/t Hurler & Scheie
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Hurler - cornea clouding & MR
Scheie - cornea clouding & NO MR |
|
Enzyme defect in Hunter disease
|
Iduronate sulfatase
|
|
Clinical Hunter disease
|
No cornea clouding
MR |
|
What are the essential fatty acids?
|
Linoleic & arachidonic acid
(do NOT feed infants skim milk) |
|
Saturated fatty acids
|
Palmitic Acid
Stearic Acid (a/w peripheral atherosclerosis) |
|
Where is the majority of bile salts reabsorbed
|
Ileum
"enterohepatic circulation" |
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What is ceramide
|
Spingosine & fatty acid
|
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What is spingomyelin
|
Ceramide & Choline
|
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What is cerebroside
|
Ceramide & mono-saccharide
|
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What is Globoside
|
Ceramide & oligosaccharide
|
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What is ganglioside
|
Ceramide & oligosaccharide & NANA
|
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Niemann-Pick: Enzyme defect & accumulate & s/s
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Sphingomyelinase
Spingomyelin HSM Foamy cells |
|
Gaucher: Enzyme defect & accumulate & s/s
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Beta-glucosidase
Glucocerebrosides HSM Osteoporosis Ashkenazi Jews |
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Krabb:Enzyme defect & accumulate & s/s
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Beta-galactosidase
galactocerebrosides Blind, deaf Convulsions Globoid cells |
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Metachromatic leukodystrophy: Enzyme defect & accumulate & s/s
|
Arylsulfatase
Sulfatides Progressive paralysis |
|
Fabry: Enzyme defect & accumulate & s/s
|
**only XR of the sphingolipidoses
Alpha-galactosidase Globosides Reddish-purple skin rash Kidney & heart failure Angiokeratoma |
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Tay-Sachs: Enzyme defect & accumulate & s/s
|
Hexosaminidase
Gangliosides Blind Cherry red macula Ashkenazi jews |
|
Acute intermittent porphyria
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Enzyme - deaminase
Porphobilinogen build-up No photosensitivity ABD pain |
|
Cutanea tarda
|
Enzyme - Decarboxylase
Uroporphyrinogen build-up Photosensitivity |
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Coproporphyria
|
Exzyme - Oxidase
Coproporphyrinogen build-up Photosensitivitiy ABD pain |
|
Lead poisoning
|
d-ALA & protoporphyrin
No photosensitivity Anemia (microcytic, hypochrome, basophilic stippling) |
|
Heme biosynthesis
|
d-ALA --> Porphobilinogen --> hydroxymethylbilane --> Uroporphyrinogen --> Coproporphyrinogen --> Protoporphyrinogen --> Protoporhyrin --> heme
|
|
Brain: normal nutrient & prolonged fast
|
Glucose
Ketone bodies & glucose |
|
Muscle: normal nutrient & prolonged fast
|
Rest - FA; Exercise - glucose
FA |
|
Heart (takes anything)
|
FA, ketone bodies, lactate, glucose
FA, ketone bodies, lactate, glucose |
|
RBC: normal nutrient & prolonged fast
|
Glucose
Glucose |
|
Substrates for Liver GNG
|
Muscle & RBC: Lactate
Fat cells: TG --> glycerol |
|
Liver production of ketone bodies
|
TG --> (glycerol - goes for GNG & FAs) --> ketones
|
|
Deficiency in Vitamin A causes
|
Night blindness
Growth retardation |
|
Deficiency in Vitamin D causes
|
Rickets
Osteomalacia Req. Ca2+ absorption, supports PTH |
|
Deficiency in Vitamin E causes
|
Ataxia
|
|
Deficiency in Vitamin K causes
|
Bleeding d/o (factors 2, 7, 9, 10)
|
|
Deficiency in Vitamin C causes
|
Scurvy
|
|
Deficiency in Vitamin B1 (thiamin) causes
|
Beriberi
|
|
Deficiency in Vitamin B2 (riboflavin) causes
|
Glossitis
Cheilosis |
|
Deficiency in Vitamin B6 (pyridoxine) causes
|
Anemia (microcytic)
Neuropathy |
|
Deficiency in Vitamin B12 causes
|
Anemia (macrocytic)
Neuropathy D. latum (worm infestation) |
|
Deficiency in Niacin causes
|
Pellagra
(Diarrhea, dementia, dermatitis) |
|
Deficiency in Pantothenate (coenzyme A) causes
|
HA
Nausea |
|
Deficiency in Biotin causes
|
Seborrheic dermatits
Nervous d/o Avidin (raw egg white) binds biotin |
|
Deficiency in Folic acid causes
|
Anemia (macrocytic)
Glossitis Colitis |