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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)
Cause of phenylketonuria
Defect phenylalanine hydroxylase
Clinical PKU
MR
Hypopigmentation
Musty odor
Cause Alkaptonuira
Defect homogentisate oxidase
Cause of maple syrup disease
Defect in branched chain decarboxylase
Clinical maple syrup disease
Hyperreflexia
Sweet odor urine
Cause homocystinuria
Defect cystathionine synthase
Clinical homocystinuria
MR
Lens dislocation
Cause Cystinuria
Defect in dibasic amino acid transporter
Cause Hartnup disease
Defect neutral amino acid transporter
Clinical Hartnup disease
Tryptophan deficiency --> Niacin deficiency --> Pellagra

(Dermatitis, Dementia, Diarrhea)
Essential amino acid in pt w/ PKU
Tyrosine
What is not a reducing sugar
Sucrose

(Are reducing sugars - glu, gal, fruc)
Hexokinase: Location, Affinity, Vmax?
Muscle
High affinity
Low Vmax

(Inhibited by G6P)
Glucokinase: Location, affinity, Vmax?
Liver
Low affinity
High Vmax

(Not inhibited by G6P)
What disaccharide - Glu + Glu
Maltose
(alpha 1-4 bond)
What disaccharide - Glu + Gal
Lactose
(Beta 1-4 bond)
What disaccharide - Glu + Fruc
Sucrose
(alpha1-beta2 bond)
What bond cannot be hydrolyzed by humans?
Beta 1-4 bond
(Cellulose)
Defect in Fructokinase causes what d/o? Clinical?
Fructosuria

Benign & asymptomatic
Defect in Aldolase B causes what d/o? Clinical?
Fructose intolerance

Hypoglycemia
Liver failure
Defect in uridyltransferase causes what d/o? Clinical?
Galactosemia

Cataracts
MR
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
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**
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
Defective enzyme in Pompe disease
alpha-glucosidase (lysosomes)
-degrades glycogen -
Clinical Pompe disease
Affects all organs
Muscle hypotonia
Cardiac failure
Death by 2 yo
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
What enzyme does skeletal m. not have; therefore, cannot release glucose into circulation
Glucose-6-phosphatase
Metabolism of glycogen
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
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"
What is ceramide
Spingosine & fatty acid
What is spingomyelin
Ceramide & Choline
What is cerebroside
Ceramide & mono-saccharide
What is Globoside
Ceramide & oligosaccharide
What is ganglioside
Ceramide & oligosaccharide & NANA
Niemann-Pick: Enzyme defect & accumulate & s/s
Sphingomyelinase
Spingomyelin

HSM
Foamy cells
Gaucher: Enzyme defect & accumulate & s/s
Beta-glucosidase
Glucocerebrosides

HSM
Osteoporosis
Ashkenazi Jews
Krabb:Enzyme defect & accumulate & s/s
Beta-galactosidase
galactocerebrosides

Blind, deaf
Convulsions
Globoid cells
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
Tay-Sachs: Enzyme defect & accumulate & s/s
Hexosaminidase
Gangliosides

Blind
Cherry red macula
Ashkenazi jews
Acute intermittent porphyria
Enzyme - deaminase
Porphobilinogen build-up
No photosensitivity
ABD pain
Cutanea tarda
Enzyme - Decarboxylase
Uroporphyrinogen build-up
Photosensitivity
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