DISEASE

DESCRIPTION

EFFECTS/SYMPTOM TREATMENT/DRU
S
G
Hyperosmotic
HYPERGLYCEMIA High blood glucose coma; polyuria;
polydipsia; weight
loss.
TYPE I DIABETES Autoimmune
destruction of cells

insulin output,
Glut 4
upregulation,
uptake of GLC.

TYPE II
DIABETES

Insulin resistant

Skeletal muscle & Sulfonylureas

liver resist action (inhibit K leak
of insulin
channels)

MODY

Pancreatic
glucokinase
deficiency
Glucose
6-phosphatase
deficiency

Requires [GLC] to
cause in [ATP]

VON GIERKES
DISEASE
(GLYCOGEN
STORAGE
DISEASE I)

Liver & kidney

affected; Liver is
enlarge; severe
ketosis,
hypoglycemia;
inherited

POMPES
-1,4-glucosinade
DISEASE (GSDII) deficiency

Cardiorespiratory
failure & death
before age 2;
inherited

CORIS DISEASE Amylo-1,6(GSDIII)

glucosidase
deficiency
(debranching
enzyme)

Liver enlargement;
severe ketosis,
hypoglycemia;
inherited

Progressive
ANDERSENS
Branching enzyme cirrhosis of the
DISEASE (GSDIV) deficiency (liver; liver failure;
death before age 2;
1,4-1,6)
inherited
MCARDLES
Phosphorylase
DISEASE (GSDV) deficiency

Affects only
muscle; inherited

Replacement
therapy
(injections)

HERS DISEASE
(GSD VI)

Phosphorylase
deficiency

Affects only liver;

same as type I;
inherited

TARUIS DISEASE Posphofructokinase Only affects

GSDVII
deficiency (PFK-1) muscle; inherited
GSDVIII

Posphorylase kinaseOnly affects liver;

sex-linked

THIAMINE-B1
DEFICIENCY

Needed for ATP,

isomerization rxns Beri Beri;
and
Wernickle-Korsakoff
decarboxylation
rxns. Transketolase
requires thiamine.

RIBOFLAVIN-B2
DEFICIENCY

Needed for FADH2

synthesis

NIACIN-B3
Needed for NADH
DEFICIENCY
PANTHOTHENIC Needed for CoA
ACID DEFICIENCY

Causes: dermatitis,
tongue
inflammation;
ariboflavinosis
Pellagra
Emotional problems
GI disturbances

PYRIDOXAL
PHOSPHATE

Needed for amino Dermatitis; apathy;

acids
convulsions.
deaminations/aldeh
yde oxidations

BIOTIN
DEFICIENCY

Needed for
carboxylations,
synthesis of fats

FOLIC ACID
DEFICIENCY

Needed for heme

synthesis, nucleic
acid bases and 1
carbon transfers

Dermatitis

Megaloblastic
anemia, neural
tubes defect

Megaloblastic
CYANOCOBALAMINeeded for fat and anemia; Pernicious
NE
amino acid
anemia; dementia;
B12 DEFICIENCY metabolism
swollen tongue

ASCORBIC ACID Needed for collagen Scurvy

(VITAMIN C)
formation
DEFICIENCY
CALCIFEROL
Used for Ca uptake Rickets;
(VITAMIN D) DEF.
osteoarthritis
ALPHANeeded for
Sterility; muscular
TOCOPHEROL
antioxidant activity dystrophy; eye
(VITAMIN E) DEF.
damage; brain
lesions
PHYLLOQUINONE Needed for blood
(VITAMIN K) DEF clotting
LACTOSE
INTOLERANCE
MALTOSE
INTOLERANCE

Hemorrhage

Acidophilus milk;
Lactase deficiency Cant digest lactose Lactade pills;
consumption of
milk products
Maltase deficiency Starch can not be
digested

SUCROSE
INTOLERANCE

Sucrase deficiency Un common

ISOMALTOSE
INTOLERANCE

Isomaltase
deficiency

No complex carbs

FRUCTOSE
INTOLERANCE

Aldolase B
deficiency

Unique to liver;
enlarged liver

GLC-6PHOSPHATE
(G6PDD)
DEFICIENCY
HEMOLYTIC
ANEMIA

Needed to make
NADPH and ribose.

FAVISM (SAME
AS G6PDD)

Pt. with favism has Pt. can not eat fava

G6PDD
beans

ALDOLASE A & C
DEFICIENCY

Oxidative stress
causes RBC to bust
open

It is lethal

GALACTOSE
INTOLERANCE

Genetic defect of
enzymes feeding
galactose

PANCREATIC
AMYLASE
DEFICIENCY

Complex carbons
cant be broken
down.

FRUCTOSURIA

Deficiency of liver
fructokinase

In pancreas

HYPERAMYLASE Excess of
Causes: gallbladder
MIA
pancreatic enzyme infection,
(amylase)
pancreatitis
ACID REFLUX

Excess acid may

cause lesions

HARTNUP
DISEASE

Defect in neutral A- Without W, niacin is

A transporter
deficient and pt.
develops Pellagra

CYSTINURIA

Defect in CYS, LYS,

ARG & ornithine
uptake
Protein deficiency;
defective Cl
channels

KWASHIORKOR
CELIAC DISEASE

Immune system
disease
CARBAMOYL
PHOSPHATE
SYNTHETASE
DEFICIENCY
(CPSI)

Antacids (tums);
H2 blockers
(zantac);
PPis(omeprazole)

Can cause kidney

stones
Associated with
malnutrition
Inflammation of gut
lining; pt. cant
digest wheat
products

NH4 in the blood

Benzoic acid;
phenylbutyrate

ORNITHINE
X-linked; most
Elevated NH4 in
TRANSCARBAMO common urea cycle the blood
YLASE
deficiency
DEFICIENCY
(CPSI)

Benzoic acid;
phenylbutyrate

ARGININOSUCCI NH4 in the blood

NATE
SYNTHETASE
DEFIENCY (CPSI)

Benzoic acid;
phenylbutyrate

ARGININOSUCCI NH4 in the blood

NATE LYASE
DEFICIENCY
(CPSI)

Benzoic acid;
phenylbutyrate

ARGINASE
DEFICIENCY
(CPSI)

Benzoic acid;
phenylbutyrate

NH4 in the blood

HYPERAMMONE [NH4] in blood;

Tremors; slurring of Benzoic acid;
MIA
phenylbutyrate
can be acquired of speech; blurry
vision;
alkalosis
hereditary; can lead
(ammonium
to death
produced in
kidneys)
HUMAN GENETIC
DISORDERS
AFFECTING A-A
CATABOLISM
ARGININEMIA

Defective urea
Mental retardation
synthesis; defective
arginase

HOMOCYSTINURI Defective
Faulty bone
A
methionine
development;
degradation;
mental retardation
defective
cystathionine
synthase
MAPLE SYRUP
Defective process Vomiting;
URINE DISEASE of ILE, LEU & VAL
convulsions;
(BRANCHED
degradation;
mental retardation
CHAIN
defective -keto
KETOACIDURIA) acid dehydrogenase
complex
METHYLMALONICDefective
ACIDEMIA
conversion of
propionyl CoA to

Acidosis (low blood

pH); causes Ca
based kidney

Diet: low in
protein;
supplement all
AA except
branched chain
AA

succinyl CoA;
stones
defective
methylmalonyl CoA
mutase; B12
deficiency
PHENYLKETONU Defective
RIA (PKU)
conversion of
phenylalanine to
tyrosine; defective
phenylalanine
hydroxylase
ALBINISM

Phenylalanin or
tyrosine deficiency;
L-DOPA does not
turn into melinine.

TYROSENEMIA II Defect of B6
Eye & skin lesions;
transamination; too neurological
much tyrosine
problems
accumulates
ALCAPTONURIA

TYROSINEMIA I
FOLATE
DEFICIENCY

Reduces
supplemental
tyrosine &
phenylalanine

Tyrosine
Causes arthritic
degradation
joint pain; black
defective;
pigment in urine
deficiency in
melanin
Fumarylacetoacetat Liver failure and
e accumulation
death
Folic acid deficiency Malnutrition;
chronic alcoholism;
liver damage;
kidney
reabsorption

MEGALOBLASTIC Folic acid

ANEMIA
deficiency;
Vit B12 deficiency

Caused by
shortage of T for
DNA synthesis

Blocks the
Anemia
methylation of U to
T
Blocks recycling of Anemia
folate

5-FU
Methotrexate
(MXT)

ZELLWEGER
SYNDROME
(VLCAD)

Defective
peroxisomal
biogenesis

Swelling of
peroxisome

KETOACIDOSIS

Form of acidosis
due to ketones

Associated with
diabetes type I

METHYLMALONY Genetic disorder

L COA MUTASE
DEFICIENCY

As toxic as radiator
fluid

GALLSTONES
BLOCKING
GALLBLADDER

Inflammation of
gallbladder due to
gallastones
blocking release of
bile

GALLSTONES
BLOCKING
COMMON DUCT

Will block flow from You cant break

gallbladder or liver down lipases or
to small intestine
amylases to small
intestine for
digestion. Jaundice
and bile duct
infection

PANCREATITIS

Elevated serum
amylase

Decreased
secretion of
pancreatic lipase;
dietary fat not
absorbed;
gallbladder
infection. Can lead
to diabetes

STEATORRHEA

Fat laden stools

Caused by
malabsorption of
dietary fats caused
by lack of
pancreatic lipase;
caused by
insufficient
production of bile
salts

CPTI

Prevents body from

Replacement
therapy:
Encapsulated
pancreatic
enzymes

DEFECIENCY

using certain fats

for energy (during
fasting state)

CPTII
DEFICIENCY

Recurrent episodes Pt. may be

of myoglobinuria
hypoglycemic with
(prolonged fasting) hypoketosis

HYPERHigh [lipoproteins]
LIPOPROTEINEMI in
AS
the blood
APO CII DEFECT Autosomal
recessive disorder

LIPOPROTEIN
LIPASE
DEFICIENCY

Chylomicron levels
are elevated
Impaired activation
of lipoprotein
lipase;
hypertriglyceridemi
a

Autosomal
You cant break
recessive disorder down triglycerides
caused by mutation
in gene which
codes lipoprotein
lipase

FAMILIAL
Genetic defect in
High cholesterol
HYPERCHOLESTE genes that code for levels; clogged
RMIA
LDL receptor
arteries
APO B DEFECT

Low affinity of
apoB-100 for LDL
receptor

MCAD

Substitution of T for Lysine replaces

High carb diet;
A of the MCAD gene glutamate residue avoid prolonged
in protein; cant do fasting
1st
step in B-oxidation

LCAD

Inhibition of
carnitine activity

ULCERS

Caused by H. pylori Excessive stomach Antibiotics

acid secretion

CYSTIC FIBROSIS Thick mucus

formation

Leads to death by
hypoglycemia

Clogs common
duct; pancreatitis

Fat free diet

AMMONIA
TOXICITY
Other Drugs/disease:
Orlistat- weight loss aid that will block digestion of fats by blocking lipases
Olestra- fake fat- taste like fat but doesnt have the calories
Cholesterol absorption inhibitors- blocks uptake of micellar cholesterol; reduces incorporation
of cholesterol to chylomicrons
Biotin deficiency- rare nutritional disorder.
Statin drugs- block cholesterol by inhibiting HMG-CoA reductase
Arsenate
Poison
Can substitute for phosphate bc they have similar structure during step 6
(glyceraldehyde 3 phosphate dehydrogenase) of glycolysis
TCA cycle when GTP is made in the succinyl CoA to succinate reaction
When arsenate substitutes for phosphate, glycolysis cant be finished leading to energy
failure
Leads to headaches, confusion, and drowsiness (energy failure)
Arsenite Poisoning
ASO3 messes up dehydrogenase enzymes (step 10) leading to energy failure
TCA when alpha ketoglutarate is turned into succinyl CoA via alpha ketoglutarate
dehydrogenase. This enzyme contains lipoic acid making it vulnerable to arsenite
poisoning.
Also, pyruvate dehydrogenase complex contains lipoic acid.
Lipoic acid
Leads to headaches, confusion, and drowsiness (energy failure)
Lesch-nyhan Syndrome
Hypoxanthine Guanine Phosphoribosyl transferase (HGPRT) deficiency
Unable to recycle bases; causing increased purines
Increases hypoxanthine and guanine concentrations leading to increased uric acid
Increased uric acid from increased purine degradation
Male children age 2
Symptoms: poor coordination, mental retardation, hostile, self destructive tendencies
Gout like damage to the brain
Treatment: allopurinol
No treatment for neurological symptoms
Gout

Overload of uric acid in body and by recurring attacks of joint inflammation (arthritis)
Chronic gout leads to hard lumps of uric acid crystals in and around the joints, decreased
kidney function, and increased kidney stone production
Symtpoms: painful attack with rapid onset of joint inflammation, deformity, kidney
failure, and kidney stone
Treatment
Allopurinol
Suicide inhibitor
Blocks the conversion of xanthine to uric acid
Blocks conversion of hypoxanthine to xanthine
Colchicine
Anti-inflammatory
Avoid foods containing purines
Meat
Seafood
Dried peas
Drink lots of water and exercise

Orotic Aciduria
Macrocytic hypochomic megaloblastic anemia due to decreased DNA synthesis
Failure to thrive, developmental retardation
Decrease in synthesis of U, C, T leading to decreased DNA synthesis
Megalobastic anemia
Arsenate(AsO4)interferes with glyceraldehyde 3 phosphate dehydrogenase
Arsenite(AsO3)lipoic acid so it interferes with pyruvate
Cyanideinhibitor of site 4 of ETC (Inhibiting O2)
CO2Fe2 (site 4 of ETC)
Rotanonsite 1 of ETC
AntimyacinSite 3 of ETC

Practice Questions:
1. A patient is suffering from severe hypoglycemia between meals. The patient is put on a
high protein diet and the hypoglycemia persists due to a defect in the Glucose-6Phosphatase enzyme what disease is the patient suffering from? Von Gierkes Disease

2. The child has liver failure and failure to thrive; massive enlargement of the liver, excess
glycogen that was unbranched Andersons
3. The child had muscle cramps, mild hypoglycemia, and excess glycogen that was partially
degraded; there was still an oligosaccharide still on it and branch points could not be
separated. Cori
4. Strenuous exercise, muscle weakness, but otherwise normal and had an excess amount of
normal glycogen McArdle
5. Clinical symptoms: enlarged liver, hypoglycemia, excess of normal branched glycogen,
high protein diet can be used to stabilize it Hers disease, defective liver phosphorylase
6. A female from Greenland has gas and bloating following the ingestion of
MUSHROOMS. She eats fruit with no symptoms. What enzyme causes this deficiency?
Trehalase
7. Clinical major key points: responded to sulfonylureas, had hyperglycemia, genetic
disease on chromosome with defect of glucokinase. MODY
8. Patient on high protein, low carbohydrate, low saturated fat diet experiences fasting
hypoglycemia, skin rashes, and brittle hair. A deficiency in what enzyme would inhibit
gluconeogenesis. AKA inability to convert pyruvate to glucose. Biotin
9. A person of Mediterranean heritage is traveling to Africa shortly after starting
antimalarial drugs, has symptoms of _____. G6PDD
10. Sodium azide volatized by H2O stimulates Site IV inhibitor? Cyanide
11. A northern European alcoholic admitted to hospital; put on sulfa drugs and has a
penicillin allergy. What kind of deficiency does he have? Thyamine deficiency
12. What do sulfonylurea drugs do? Block the potassium channels
13. A patient has Type I diabetes; What cant you do? Synthesize glycogen
14. A patient is suffering from hypoglycemia between meals. The patient is put on a high
protein diet and the hypoglycemia persists implying that amino acids cant be converted
to glucose. Which disorder is most consistent with these symptoms. Von Gierkes Disease
(Defect in liver and kidney glucose 6 phosphatase)
15. A 6 yearold child is showing limited ability to perform strenuous exercise due to muscle
cramps. A biopsy shows a large amount of normal glycogen in the muscle. Patient is
otherwise normal and well developed. McArdles Disease (defect in muscle
phosphorylase)
16. A 1 year old child died of liver failure. Prior to death he was unable to thrive, had
massive enlargement of the liver, MILD hypoglycemia, and excess glycogen that was
unbranched. Andersons
17. Some degradation has taken place but the branch points cant be broken. Coris

18. Enlarged liver, excess of normal branched glycogen, hypoglycemia, high protein diet can
be used to stabilize. Herrs
19. Deficiency in which vitamin will be most consistent with inability to synthesize glucose
from pyruvate. Biotin
20. Mediterranean heritage. Fava beans is a traditional ingredient of Falafel; a common food
in the Mediterranean culture.This beans contains divicine. Divicine can cause this type of
anemia in glucose-6-phosphate dehydrogenase deficient individuals. glucose 6 phosphate
dehydrogenase deficiency
21. Which toxin cause hyperthermia? DNP
22. Which molecule inhibit site four of ETC: cyanide
23. Name the organ(s) affected by the following disease(s):
a. Von Gierke's - Liver
b. Pompe's - All organs with lysosomes
c. Cori's - liver and muscles
d. Andersen's - Liver
e. McArdle's - skeletal muscle
f. Hers' - Liver