Folate and Vitamin B12

Deficiency

Ray Angelo C. Robidillo

Advisor: Sir Jolito

Background
 Vitamins
 Organic compounds that act as metabolic
catalysts
 Two groups fat-soluble and water-soluble
 Folate and vitamin B12
 Water-soluble vitamins important in the
formation of red blood cells, the nervous
system, and DNA
Vit B12(Cobalamin)
 Meat and dairy products
 Important coenzyme in 2 biochem rxn
 isomerization of methylmalonyl coenzyme A
(CoA) to succinyl CoA
 transfer of a methyl group from 5-methyl THF
to homocysteine
B12 Metabolism
Folate(B9)
 General term used for any form of Vit folic acid
 Found in leafy green vegetables, dried beans,
liver and beef
 Transfer carbon units in the form of methyl
groups from donors to receptors
B12 and Folate roles in DNA
synthesis
Pathophysiology
Folic acid and vitamin B12
 Required for DNA synthesis and red cell maturation

 Two vitamins combine in methionine synthase reaction

 Methyl group is transferred to homocysteine to make

methionine
 Decrease in either leads to increase in homocysteine
level
Megaloblastic Anemia
 Deficiency leads to change in RBC shape
 Megaloblastic anemia is a subgroup of macrocytic
anemias
 Megaloblastic erythropoiesis when defect in DNA synthesis and
the cells are arrested at the G2 phase
 Becomes a buildup of cells that do not synthesize DNA so
nucleus develops at a slower rate than the rest of the cell
 Cytoplasm continues to grow due to RNA synthesis
 Cells become larger and megaloblastic
Causes of Deficiency
 B12:  Folate:
 Ileal disease (TB,  Malnutrition: Destroyed by
lymphoma, post- heat during cooking
radiation, Crohn’s)  Alcoholism (decreased in
 Fish tapeworm 2-4 days): impairs
(Diphyllobothrium enterohepatic cycle and
latum) infection inhibits absorption
 Inadequate  Increased requirement in
intake(Vegans) hemolytic anemia,
pregnancy, exfoliative skin
disease
 Drugs
Effects on the
Body:Folate

Main manifestations
glossitis, symptoms of anemia (weakness,
pallor, shortness of breath), and GI problems
(weight loss and infertility)

Recommended intake of folate for adults is 400

micrograms per day, and for women of
childbearing age is 600 micrograms per day
Hyperhomocysteinemia
 Folate deficiency is number one cause
 Hyperhomocysteinemia is less than 12
micromoles per liter
 Closely related to CVD
 American Heart Association reported that
47% of all patients with CVD had
hyperhomocysteinemia
Effects on the Body:Vit. B12
 Main manifestations
 same as those for folate but may be a more serious presentation
with peripheral neuropathy, degeneration of the spinal cord, or
demyelination of white matter of brain
 Patient may present with difficulty walking, parasthesia, loss of
memory function, and a positive Romberg test
 Lab work
 also shows an increase in size of MCV
 Subacute Combined
Degeneration
Degeneration and demyelination of the
dorsal (posterior) and lateral spinal
columns
Screening Test
 Five tests are used to screen for megaloblastic anemia:
 blood count (CBC)Hb values <7-8%

and <20%Hct
 reticulocyte count Low retic. count

 WBC manual differential count hypersegmented

neutrophils
 serum bilirubinInc lvls

 lactate dehydrogenaseInc lvls

Specific Diagnostic Tests
 Bone Marrow Exam
 Reference confirmatory test to identify the

megaloblastic appearance of the developing RBCs.

 Folate,B12,MMA and Homocysteine assay

 Testing serum or plasma levels using IA
Clinical Findings
Peripheral Blood Bone Marrow
Treatment
 Distinguishing between the two vitamin deficiencies
 Treatment is to supply the vitamin
 Recommended intake of folate for adults is 400 mg/day,
and for pregnant women of it’s 600 mg/day
 Recommended intake of vitamin B12 for adults is 2.4
mg/day, pregnant women it’s 2.6 mg/day
 Case Study
 B12 serum level: 196  |  Folate: 7
 Symptoms experienced:

Depression Headaches
Paranoia Irritability
Mood swings Mania
Psychosis Tinnitus
Glossitis Premature greying
Chronic fatigue Heavy periods
Weight loss Visual disturbance
Case Study

Sara was vegetarian from her early teens until her early thirties.
Her eyesight was affected at age eighteen and by her thirties
severe depression had set in. Her periods became progressively
more painful and tinnitus and chronic fatigue began.
Sara like many others, had never been screened for physical
reasons for her depression. She was misdiagnosed with bipolar
and was sectioned following a psychotic episode. Her doctor was
completely unaware of the psychiatric manifestations of B12
deficiency and initially refused to even test for either thyroid
dysfunction or B12 deficiency both of which cause psychosis.
Once tested she was shown to be deficient but was refused
treatment as the doctor insisted there were no symptoms present.
 A second doctor would only prescribe low dose oral B12 which was
entirely useless for the advanced neurological symptoms. Eventually
after changing doctor a third time, injection loading doses were
given. Luckily Sara is now in safe hands with a doctor who has
updated their previously poor knowledge of B12 deficiency. She now
self injects every other day and takes a good vitamin B complex and
5mg of folic acid daily. Her depression and anxiety improve every
day, her periods are far less painful and her tinnitus is quietening.
 Once Sara was given ferrous sulphate to raise her low ferritin levels
her chronic fatigue improved enormously and she is now firmly on
the road to recovery.
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