Quick Review : Diseases

Disease / Deficiency

Cause / Effect

Refsum's Disease

Inability to carry out alpha-oxidation of fatty acids

(Treatment = NO diary products in diet)

Increased Dicarboxylic Acid (Lots of 8 Carbon Fatty Acids in blood)

No Beta-Oxidation ONLY

omega-oxidation

Biotin Deficiency

No Fatty Acid Synthesis or 1-carbon transfers of amino acids

No Odd Chain Fatty Acid total Synthesis (succinyl CoA)

Increased Beta-Ox of fatty acids (no Malonyl CoA to inhibit)

No Leukotriene Synthesis

(Lipoxygenase Pathway)

No Slow-reacting substances of Anaphylaxis (sustained constriction of bronchi smooth muscle) vs. too much synthesis=asthma

No B6 (PLP)

Hyperaminemia & No Glutamate Formation from Alanine & Ketoglutamate / Stuck in Methyl Cycle (no serine to cysteine or glycine)

No Neurotransmitters (Serotonin, Melanonin, Epinephrine, Histimine)

Not degrade some Neurotransmitters / No Heme Synthesis

No Folic Acid

Or

No Tetrahydrofolate OR

B12

Methyl Trap Theory (Stuck with 5-Methyltetrahydrofolate)

No Amino Acids to Succinyl CoA from Methylmalonyl CoA (only B12)

Decreased DNA/RNA synthesis (mogoloblastic anemia)

No Histidine to Ketoglutarate

No NADPH

No Fatty Acid Synthesis / Heme Synthesis

No Cholesterol Synthesis / Bile Acids

No Tetrahydrobiopterin

No Phynlyalanine to Tyrosine (now essential amino acid)

No Tryptophan to Neurotransmitters

No Arginine to Nitric Oxide (neurotransmitter)

Essential Fatty Acid Deficiency

No Linoleic or Linolenic in Diet (also Arachidonic Acid?)

"Scaley" dermititis, Mead Acid increase (body compensating)

Perturbants of AcCh

Bungarotoxin / Cobra Toxin = Antagonist

Myasthenia Gravis = Autoimmune Disease (destroy receptor w/ Antibody)

Chronic Granulomatous

Lack ability to convert O2 to Superoxide (NADPH-oxidase)

Sickle Cell Hemoglobin

6^th Position of Beta Chain (Glutamate to Valine switch)

RBC lose resiliency / Resistence to Malaria!!

Thalessemia

Missing one of Beta Chains on Hemoglobin (not Alpha chain)

Osteogenesis Imperfecta

Defect in Type 1 Collagen (bones)

Scurvy

Decrease in Hydroxyproline or Hydroxylysine / Poor wound healing

Diabetes

Type 1 = Most common with children / cause Diabetes Ketoacidosis

Type 2 = Adults / Make insufficient amount of insulin

I Cell Disease

Lysosome enzymes absent,

unable to phosphorylate mannose (N-Linked Glycoprotein)

Skeletal abnormalities, restricted joint movement

Dissacharide Deficiency

Not digest Lactose & sucrose (flatulence/diarhea since bacteria thrive)

Drug Induced Hemolytic Anemia

Glucose 6-Phosphate Dehydrogenase Deficiency

(Anti-malarial drugs, aspirin may induce) Big to RBC

Vitamin D Rickets

(Calcium Problem)

Type 1 = Defect in renal 1a-Hydroxylase

Type 2 = Defect in Receptor for Vitamin D

Hypervitaminosis A

Greater then 7.5mg/day of Vitamin A

Defective Glucose 6 Phosphatase

Glycogen Build up / Lactic Acidemia

Impaired Gluconeogenesis (Last Step in Liver Gluconeogenesis)

Lipiod Congenital Adrenal Hyperplasia

No StAR (Cholesterol transporter across mitochondria membrane)

Luft's Disease

Defective Coupling of Oxidative Phosphorylation

Atherosclerosis

High Cholesterol result in "scavenger" receptors to deposit cholesterol on artery walls