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:
Ileal disease (TB,
lymphoma, postradiation, Crohns)
Fish tapeworm
(Diphyllobothrium
latum) infection
Inadequate
intake(Vegans)

Folate:
Malnutrition: Destroyed by
heat during cooking
Alcoholism (decreased in
2-4 days): impairs
enterohepatic cycle and
inhibits absorption
Increased requirement in
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 bilirubinInc lvls
lactate dehydrogenaseInc 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 its 600 mg/day
Recommended intake of vitamin B12 for adults is 2.4
mg/day, pregnant women its 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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