Term
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Definition
Cu poisoning caused by autosomal recessive disease
defect leads to reduced biliary excretion
copper accumulates in liver, brain, & cornea
*Kayser-Fleisher rings
-treat with Chelation therapy |
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Term
| Menke's Kinky Hair Syndrome |
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Definition
X-linked Genetic Disease
fatal by age 3, defect in Cu-ATPase transporter
mimics both copper deficiency & toxicity
-copper accumulates in intestine, spleen, muscle, & kidney |
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Term
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Definition
functions in numerous enzymes in RNA/DNA-polymerases
*Not found in leavened bread (common in Middle East)
Loss of appetite/taste/smell & PATCHY HAIR LOSS |
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Term
| Acrodermatitis Enteropathica |
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Definition
Autosomal failure to produce Zn-binding protein
*Treat with high oral doses, compensates for reduced absorption efficiency |
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Term
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Definition
Selenium deficiency
Cardiomyopathy characterized by multifocal necrosis, fibrous replacement, myocytolisis
*Se-supplementation can prevent progress of disease |
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Term
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Definition
Osteoarthritis in pre-adolescence caused by Se-deficiency
Necrotic degeneration of chondrocytes, dwarfism, joint deformation |
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Term
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Definition
Deficiency: night blindness, xerophthalmia (dry eyes), failure to produce tears, keratomalacia, BITOTs SPOTS, rupture cornea
Tooth enamel destruction, lack of sense of taste
*Toxicity:
-Diets high in Liver!
Headaches, drowsiness, loss of hair, skeletal pain, resorption of bone, diarrhea |
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Term
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Definition
Deficiency:
-Flaky skin, weak muscle, liver degeneration, hemolysis, increased lipofuscin formation
-Cancer, Sterility
Toxicity: GI distress, nausea, diarrhea, failure of blood clotting |
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Term
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Definition
Ataxia & Vitamin E Deficiency
-inability of liver to pass tocopherol into blood stream
-severe neurological defects |
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Term
| Phylloquinone/Menaquinone |
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Definition
Vitamin K
Deficiency: hemorrhaging, stomach pain, bone malformation, deposition of Ca salts in arteries
Toxicity: hemolytic anemia, jaundice, mental retardation
*Phylloquinone administered in treatment of Warfarin poisoning (d-CON) |
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Term
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Definition
Vitamin B1
Beri-beri = ketoacidosis, from inhibition of transketolase
*Pyruvate dehydrogenase, ketoglutarate dehydrogenase, Transketolase
Deficiency: weakness, wasting of muscles, uncoordinated movements, convulsions, confusion, tachycardia, high serum pyruvate
*Numbess of legs, nausea, anorexia
*inaudible cry in infants |
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Term
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Definition
Vitamin B2
-prosthetic group of oxidoreductases
Deficiency: hypochondriasis, cheilosis, glossitis, sore throat, growth retardation, fatty dermatitis, NORMOCYTIC ANEMIA |
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Term
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Definition
Vitamin B3 --> synthesized from Tryptophan
Nicotinamide Deficiency: Pellagra (diarrhea, dermatitis, dementia, death)
-also caused from diets high in Leu, Ileu
Nicotinic Acid Toxicity: VASODILATOR
-flushed skin, tachycardia, hypoglycemia, tingling |
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Term
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Definition
Vitamin B5
*component of CoA
-functions in FA-synthesis |
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Term
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Definition
Vitamin B6
*Required for Transaminase (in Pyridoxal-Phosphate form)
Deficiency: weakness, difficulty walking, HYPOCRHOMIC ANEMIA, insomnia
-Increased Oxalate in urine
-piercing cry in babies |
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Term
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Definition
Vitamin B7
*Required for Acetyl-CoA carboxylase, production of Malonyl-CoA
*Required for Pyruvate carboxylase for synthesis of oxaloacetate
-Deficiency: Maculosquamous dermatitis, alopecia, low appetite, nausea, depression, seizures, glossitis
-AVIDin in Eggs AVIDly binds Biotin, inhibiting it |
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Term
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Definition
*Must be converted to THF for bioactivity
-Required for DNA/RNA synthesis, functions as a C1-carrier
-Deficiency: MEGAloblastic anemia, weak immune system
*NO neurological symptoms
-Toxicity: interferes with Zn uptake |
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Term
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Definition
Vitamin B12
*Required for Methylmalonyl-CoA mutase
-deficiency = methylmalonic aciduria
-Megaloblastic anemia from failure to produce IF
-Pernicious Anemia --> destruction of Parietal Cells
-Peripheral Neuropathy, dizziness, hyperbilirubinemia |
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