IgA found in the colostrum TYPE III

Granulation tissue
IgD – cell surface determinant of B cells (as well Scar or healing tissue
as monomeric IgM) **reticular fibers
Blood vessels
IgE – binds with the high affinity to MAST CELLS
; Play a role in immunity to PARASITES TYPE IV (FLOOR)
IgG – opsonizes bacteria for phagocytosis; ***glomerular basement membrane
crosses PLACENTA
IgA – Found in bodily secretions; colostrum DEFICIENCY OF TYPE IV COLLAGEN CAUSES:
IgM – doesn’t cross the placenta ; PENTAMERIC ALFOURT SYNDROME (ALPORT) :
IgD – uncertain; acts as a cell surface receptor GLOMERULPNEPHRITIS + HEARING LOSS
for the activation of B lymphocytes ; major
component of the surface membrane of B cells. TYPE V
IgE – Mediates immediate hypersensitivity ; Fetal tissues
Eosinophils; defends against parasitic infections Interstitial tissues
THE CLASSICAL EHLER’S DANLOS SYNDROME
COLLAGEN (OTHER REFERENCE PWEDENG TYPE III OR V)
Contains hydroxyproline, hydroxylisine and
vitamin c (collagen synthesis; for hydroxylation TYPE VII
of collagen) dependent ANCHORS BASAL LAMINA
Produced in rough endoplasmic reticulum,
secreted as triple helix procollagen (inactive pa VITAMINS
sya, so from pro-collagen to collagen) FAT SOLUBLE (ADEK)
WATER SOLUBLE
GLY - X- Y (BASIC COLLAGEN STRUCTURE)
Gly- glycine FAT SOLUBLE: (easily causes hypervitaminosis)
X- Proline Requires BILE and pancreatic juice for
Y- hydroxyproline ABSORPTION
Transported to the liver via the LYMPH as
Most common type of collagen : TYPE 1 LIPOPROTEINS
collagen STORED in various tissues
NOT NORMALLY EXCRETED in the urine
Type I
– BONE (OSTEOGENESIS IMPREFECTA; AKA Vitamin A (RETINOL)
BRITTLE BONE DISEASE) ; BLUE SCLERA seen in -Precursors called carotenes
Osteogeneis imperfecta (tyndallization of -Most effective pro vitamin: B carotene
underlying choroidal veins) -Supporting growth and maintenance of
– TENDON, FASCIA epithelial tissue
-Constitutient of visual pigment – RHODOPSIN
TYPE II -KERATOMALACIA – ULCERATION OR SCARRING
-car2lage OF SCLERA
-nucleus pulposus (SEEN IN HERNIATED DISC) -NYCTALOPIA (night blindness - RHODOPSIN) –
-Vitreous Humor EARLIEST MANIFESTATION OF DEFICIENCY
-descemet’s membrane
 Causes:
LIPID MALABSORPTION
VITAMIN D (CALCIFEROL) LIVER DISEASE
PRECURSORS: DESTRUCTION OF FLORA BY ANTIBIOTIC
1.D2 (VEGETABLE ORIGIN)
ERGOCALCIFEROL HIGH RISK POPULATION:
2.D3 ANIMAL ORIGIN NEWBORN INFANTS
*****CHOLECALCIFEROL PREMATURE BABIES

ACTIVE FORM OF VITAMIN D – 1,25 WATER SOLUBLE VITAMINS

DIHYDROCHOLECALCIFEROL AKA VITAMIN D3 VITAMIN B COMPLEX
(ACTIVATION HAPPENS IN THE KIDNEY) ***B1 (THIAMINE)
THIAMIN PYROPHOSPHATE (TPP)**
FUNCTIONS: THIAMIN TRIPHOSPHATE (TTP)
-promotes intestinal absorption of CALCIUM
-stimulate active PHOSPHATE transport THIAMINASE – AN ENZYME
-mobilizes calcium from the BONE FOUND IN UNCOOKED FRESH WATER FISH AND
SHELLFISH
DEFICIENCY: DESTROYS 50% OF THIAMINE
-RICKETS VIT B1 deficiency
(rachitic rosary, bowed legs; knees bent out)
-OSTEOMALACIA TEA – Contains anti thiamine factor
Leads to vitamin b1 deficiency
VITAMIN E
(ALPA TOCOPHEROL) ALCOHOL –inhibits its active transport.
-ANTI OXIDANT PROPERTIES:
-PREVENT THE PEROXIDATION OF PUFA **BER1-BER1
-ENHANCES THE ACTIVITY OF VITAMIN A 1.DRY
(SERVES AS SCAVENGERS OF OXYGEN FREE -CNS manifestation (headache, insomnia,
RADICALS) dizziness)
2.WET
*****ANTI OXIDANT VITAMINS -edema and effusion
VITAMINS A,C,E

VITAMIN K
N
VITAMIN B3 ( IACIN)
-anti-hemorrhagic factor NICOTINIC/NICOTINAMIDE
-Coagulation factor NBW***PELLAGRA
3 forms: -DERMATITIS (CASSAL’S NECKLACE)
1.PHYLLOQUINONE (PLANTS) -DEMENTIA
2.MENAQUINONE (BACTERIAL SYNTHESIS) -DIARRHEA
3.MENADIONE (SYNTHETIC; FAT-SOLUBLE) -DEATH

VITAMIN K DEPENDENT CLOTTING FACTORS: VITAMIN B6

1972 (II, VII,IX,X) (PYRIDOXINE, PYRIDOXAL, PYRIDOXAMINE)
FUNCTIONS:
DEFICIENCY: -transamination
Abnormal bleeding. -synthesis of GABA
DEFICIENCY: -OXIDATION of PHENYLALANINE to TYROSINE
-peripheral neuritis (AROMATIC RING / UV absoption)
-isoniazid intake (impairs absorption of vit B6) -CONVERSION of TRYPTOPHAN to SEROTONIN
SCURVY:
VITAMIN B7 (BIOTIN) -FOLLICULAR HYPERKERATOSIS
-addition or removal of CO2 **-SWOLLEN, INFLAMED GUMS
-synthesis and oxidation of FAs -LOOSENING OF TEETH
***-WOUNDS FAIL TO HEAL
Causes: -EASY BRUISABILITY
***AVIDIN –Protein in raw eggs that destroys
biotin ZINC
ACRODERMATITIS ENTEROPATHICA
VITAMIN B9 (CONGENITAL ZINC DEFICIENCY, BRANDT
(FOLIC ACID, FOLACIN) SYNDROME, DANBOLT CROSS SYNDROME)
Functions: -ZINC DEFICIENCY
-synthesis of PURINES AND THYMINE -AUTOSOMAL RECESSIVE
-Formation and maturation of RBC and WBC DERMATITIS, DIARRHEA PERO MAY ALOPECIA
-NEURAL TUBE DEFECTS
SPINA BIFIDA OCCULTA CLINICAL BIOCHEMISTRY:
MENINGOCELE PRION’S DISEASES AND ALZHEIMER’S:
MYELOMENINGOCELE - PROTEIN FOLDING DISORDERS

VITAMIN B12 (CYANOCOBALAMIN) PRION:

**EXCLUSIVELY FROM ANIMAL FOOD SOURCES 1.)CREUTZFELD JACOB
***HIGH RISK POPULATION FOR VITAMIN B12 (SPONGIFORM ENCEPHALOPATHY)-
deficiency are strict vegetarian BALLOONING EFFECT
ABSORPTION: -HUMAN PrP gene
-requires INTRINSIC FACTOR (from the PARIETAL -RAPID PROGRESSIVE DEMENTIA
CELLS) AND CALCIUM -BEHAVIORAL ABNORMALITIES, ATAXIA, AND
TRANSPORT***: MYOCLONIC JERKS
TRANS – COBALAMIN
DIAGNOSIS:
FUNCTIONS: DEFINITIVE: BRAIN BIOPSY; OR POST MORTEM
Transfer of methyl groups in nucleic acid EXAMINATION OF BRAIN TISSUE
synthesis (particularly in nucleic acid synthesis) CSF : 14-3-3 ANALYSIS
Vitamin b12 affects myelin formation EEG: PERIODIC COMPLEXES (DIFFUSE HIGH-
AMPLITUDE SHARP WAVES)
DEFICIENCY:
GLOSSITIS, MEGALOBLASTIC ANEMIA, PARA SYANG SAME SA MAD COW DISEASE
HYPOSPERMIA, GI SYMPTOMS
2.) KURU
VITAMIN C (ASCORBIC ACID) -Transmissible disease
-enhancement of absorption of IRON -Means to shake
-blocks DEGRADATION of FERRITIN to -Laughing sickness
HEMOSIDERIN -Cannabalism
-HYDROXYLATION of PROLINE to 3.) SCRAPIE
HYDROXYPROLINE in COLLAGEN SYNTHESIS 4.) BSE
GLUTAMATE:
-replaced by VALINE at position 6 of BETA GLYCOGEN STORAGE DISEASES:
GLOBIN, POLYMERIZES inside the RBC.
-SICKLE CELL ANEMIA

Synthesis of ALPHA GLOBIN is DECREASED or

ABSENT
-ALPHA-THALASSEMIA

SPECTRIN DEFICIENCY CAUSES SPHERICAL RBCs

THAT ARE RAPIDLY CULLED BY THE SPLEEN
-HEREDITARY SPHEROCYTOSIS

BLUE SCLERA, MULTIPLE FRACTURES AND

CONDUCTIVE HEARING LOSS:
-OSTEOGENESIS IMPERFECTA

BERRY ANEURYSMS, HYPEREXTENSIBLE SKIN,

HYPERMOBILE JOINTS, TENDENCY TO BLEED:
-EHLER’S DANLOS SYNDROME (TYPE V ; TYPE III
AND V)

LOOSE TETTH, SORE SPONGY GUMS, POOR 1. VON GIERKE’S DISEASE

WOUND HEALING: -TYPE I
-SCURVY ENZYME - **GLUCOSE 6 PHOSPHATASE
deficiency
AORTIC DILATION, DOLICHOSTENOMELIA, -severe hypoglycemia, lactic acidosis,
ARACHNODACTYLY: hepatosplenomegaly, skin xanthomas, fatty
-MARFAN SYNDROME liver.
-Cherub like facies
STRUCTURAL PROTEIN DEFECTS:
2.POMPE’S
MARFAN SYNDROME -TYPE II
ENZYME - ACID MALATASE or ALPHA
-FIBRILLIN -1 (FBN 1)DEFECT (NOT 2 or 3)
GLUCOSIDASE
-TALL, DISLOCARTED LENS, AORTIC ARCH -HEART FAILURE
ANEURYSMS
3. CORI’S DISEASE
-TRIAD: -TYPE III
SKELETAL CHANGES -AKA CORI’S, FORBE’S OR LIMIT DEXTRINOSIS
RED VISION ENZYME- DEBRANCHING ENZYME
AORTIC ANEURYSM -LIVER AND MUSCLE
-LIMIT DEXTRIN
***-TYPE 3B – NO MUSCLE WEAKNESS

4.ANDERSEN’S DISEASE
-TYPE IV
ENZYME- BRANCHING ENZYME
-DIES BEFORE THE AGE OF 5

ABCD
BOTH MAY HEART PROBLEM
A ndersen = B ranching
C ori = D ebrancing
-AMYLOPECTIN (IN THE LIVER AND HEART)

5. MCARDLE’S DISEASE
-TYPE V
ENZYME - MUSCLE PHOSPHORYLASE
-MYOPHOSPHORYLASE
-POOR EXERCISE TOLERANCE, ABNORMAL
-HIGH MUSCLE GLYCOGEN
-LOW BLOOD LACTATE AFTER EXERCISE

6.HER’S DISEASE (HEP HEP HERAY!)

-TYPE VI
ENZYME -HEPATIC GLYCOGEN
PHOSPHORYLASE

7. TARUI’S DISEASE
-TYPE VII
ENZYME- PHOSPHOFRUCTOKINASE
-SAME NG MCARDLE’S (HIGH MUSCLE
GLYCOGEN AND LOW BLOOD LACTATE AFTER
EXERCISE PERO ETO MAY HEMOLYTIC ANEMIA)