MINERALSCOPPER

Dr. Vijay Marakala, MBBS, MD.

Assistant professor BIOCHEMISTRY SIMS & RC

COPPER

Sources RDA Metabolism

Functions Disorders

COPPER - SOURCES

Liver

Kidney

Meat

Egg

Cereals

Green leafy

vegetables

Nuts

COPPER - RDA

2-3 mg/day

COPPER - METABOLISM

Absorption • Upper small intestine• Efficacy 10%

Transport • Ceruloplasmin • Copper-albumin

complex

PLASMA COPPERPlasma copper is 100-200 µg/dl

90% bound to

CPL

10% bound to albumin

Normal serum ceruloplasmin 25-50mg/dl

Glycoprotein Serum ferroxidase

COPPER - FUNCTIONSCopper is a component of many enzymes

Ceruloplasmin- Iron transport Tyrosinase – Biosynthesis of melanin Lysyl oxidase – Collagen biosynthesisCytochrome oxidase – ETCTryptophan pyrrolase – CatabolismSuperoxide desmutase – AntioxidantDopamine hydroxylase – catecholamine synthesisALA synthase – Heme synthesis

COPPER DEFICIENCYCauses Malnutrition

Malabsorption

Nephrotic syndrome

Features Anaemia, cardiac failure

Hypopigmentaion of the skin

Growth retardation

COPPER TOXICITYCauses Excessive intake

Wilson’s disease

Features Nausea, vomiting, diarrhea

Hepatitis, cirrhosis

Renal dysfunction

INBORN ERRORS OF COPPER METABOLISM

Menke’s syndrome Wilson’s disease

MENKE’S SYNDROMEMENKE’S KINKY HAIR SYNDROME

Cause Inheritance

Features Lab findings

MENKE’S SYNDROME

CAUSE Defect in transport of copper from intestinal mucosal cell to blood

Due to mutation in the gene encoding copper binding P type of ATPase

MENKE’S SYNDROME

Sex linked recessive disorderInheritan

ce

MENKE’S SYNDROME

Males are affected (Infants)

Growth failure

Mental retardation

Abnormal hair [Kinky or silky hair]

Fatal, death occurs at early life

MENKE’S SYNDROME

Biochemical findings

Low serum copper

Low serum ceruloplasmin

MENKE’S SYNDROME

•There is no effective treatment for this condition

Treatment

WILSON’S DISEASE

Cause Inheritance

Features Lab findings

WILSON’S DISEASE

CAUSE Defect in transport of copper and secretion of ceruloplasmin from the liver

Due to mutation in the gene encoding copper binding P type of ATPase in liver

WILSON’S DISEASE

Autosomal recessive disorderInheritanc

e

WILSON’S DISEASE

Features

Hepatitis, Cirrhosis

Tremor, dementia

Kayser- Fleischer ring

Amino aciduria, glycosuria

WILSON’S DISEASE

Lab findingsDecreased serum copper

Decreased serum ceruloplasmin

Increased serum copper excretion in urine

Marked accumulation of copper in liver

WILSON’S DISEASE - TREATMENT

Diet low in copper

Administration of copper chelator

Penicillamine