VITAMINS
Beriberi
-Wernicke-Korsakoff syndrome
SYMPTH :
Peripheral neuropathy (dry)
- Edema & Cardiomyopathy
(Wet)
- Confusion, ataxia,
memory loss, hallucinations, dysregulated eye movements.
Descending colon BLOOD
L. Colic (IMA)
Classical Galactosemia
GALT DEF
Galactose 1-Phosphate (accumulates)
Galactitol(accumulates in lens, liver, & brain)
SYMP :
Hypoglycemia - after dietary Lactose (milk) or Galactose Trigger
- Hepatomegaly
- Reducing sugar (Galactose) in urine
FOLATE
Deficiency
- Megaloblastic anemia
- Neural Tube defects
SYMPTH:
- Anemia
- Birth defects - HIGH AFP
Stomach Lymph
Celiac nodes
Hereditary Fructose Intolerance
Aldolase B (Liver) DEF
Fructose 1-Phosphate (accumulates)
SYMP:
Hypoglycemia --- few hours after Sucrose or Fructose trigger (4-8 months of age)
- Hepatocellular failure & Jaundice
- Reducing sugar (Fructose) in urine
VITAMIN C
DEF :
Scurvy
SYMP :
Sore, Spongy Gums - Loose teeth
- Poor Wound healing - Bleeding
blood supply for Above pectinate line
Superior rectal a. (IMA)
Addison’s Disease
DEF :
Destruction of both adrenals (usually autoimmune)
Deficiency of ALL corticoid hormones
-Cortisol synthesis is REDUCED
SYMP :
Weight loss
- Muscle weakness
- Hypotension
- Electrolyte Imbalances
- Hyperpigmentation: Bronze
pigmentation b/c of ↑ synthesis of Corticotropin Releasing Hormone (CRH) from Hypothalamus
- Thinning of axillary & pubic hair in some females
- Abdominal pain
RETINOL
DEF :
- Night blindness
- Xerophthalmia
- Infertility
- Growth retardation
SYMP :
Increased visual threshold
Dryness of cornea
Below pectinate line blood supply
Inferior rectal a. (Internal pudendal)
CAH (CYP 21)
DEF :
21b- Hydroxylase (CYP 21)
SYMP :
↓ BP
↓ Blood Glucose
↑ Androgen
Menadione
DEF :
Bleeding
Produced by intestinal bacteria.
Intramuscular treatment w/ Vit. K recommended at birth
Appendix blood supply
Appendicular a.
Hyperammonemia Type I
CPS I deficiency
SYMP :
HIGH AMMONIA
Respiratory Alkalosis
HIGH pH, LOW ̄ CO2, HCO3- (normal or ̄)
HIGH Glutamine & Alanine
LOW Urea (& all Urea cycle intermediates)