DEFINITIONSNiemann-Pick disease is an inherited condition in which there is a deficiency of a specific enzyme resulting in accumulation sfingomielin (the result of fat metabolism) or there is an abnormal accumulation of cholesterol.CAUSEGene responsible for Niemann-Pick disease is recessive, a person must have 2 genes from both parents.The disease is most common in Jewish families.SYMPTOMSNiemann-Pick disease has five forms or more, depending on the weight or the weight of the enzyme deficiency of cholesterol accumulation.In the juvenile form, accompanied by severe enzyme deficiency, there is no enzyme.Nervous system disorders occur heavy because the nerves can not use sfingomielin to produce myelin (nerve sheath).The children with this disease have a growth of fat in the skin, has dark pigmentation...

DEFINITIONSXantomatosis Serebrotendinosa is a rare hereditary disease that occurs, caused by the accumulation kolestanol (a product of cholesterol metabolism) in the network.SYMPTOMSThis disease eventually causes:- Uncontrolled movements- Dementia (senile)- Cataracts- Growth of fat (xantoma) on the tendon (tendon).These symptoms often emerged only when patients aged over 30 years.TREATMENTIf these symptoms appear early, kenodiol drug can help prevent the progression of the disease, but can not heal the damage that has happened befo...

DEFINITIONSRefsum disease is a rare hereditary disease occurs, which fitanik acid (fat metabolism results) piled on the network.CAUSESYMPTOMSFitanik acid accumulation causes:- Damage to nerves and the retina- Movement of the spastic (stiff)- Changes in the bones and skin.DiagnosisTREATMENTAvoid vegetables and fruits that are green, which contain chlorophyll.Plasmaferesis is a procedure in which acid from the blood fitanik issu...

DEFINITIONSAcrocyanotic is a bluish color without pain in both hands and feet (more rarely) that are settled.This disorder usually occurs in women.CAUSEThe reason is the strain that can not be explained in the small blood vessels in the skin.SYMPTOMSFingers or toes and hands or feet continually cold and bluish, and sweating a lot, swelling can also occur.Cold temperatures will increase the color is usually bluish and heating will reduce it.Not found the pain and skin damage.DiagnosisDiagnosis based on symptoms that persist, which is limited to the hands and feet the patient, accompanied by a normal pulse.TREATMENTAlthough very rare, to reduce the symptoms can be done cutting the sympathetic nerv...

Wolman disease is an inherited condition that occurs when a type of cholesterol and certain glyceride buried in the network.SYMPTOMSThis disease causes enlargement of the spleen and liver.Calcium deposition in the adrenal gland causing the gland becomes hard.Can happen steatorrhea (fatty stools).Infants with Wolman disease usually die within 6 months of a...

DEFINITIONS Aneurysm is a protrusion (dilation, dilatation) on the walls of an artery.Abdominal aorta aneurysm occurred in a part of the aorta that passes through the stomach.This disease tends to occur in a family (inherited).These aneurysms often occur in people with high blood pressure, size greater than 7.5 cm and can rupture. (Normal diameter of the aorta is 1,8-2,5 cm).CAUSEThe cause is certainly not unknown, but risk factors of abdominal aortic aneurysm is atherosclerosis and hypertension.Abdominal aortic aneurysm may be caused by:- Infection- Congenital abnormalities in the connective tissue that make up the arterial wall- Trauma.Abdominal aortic aneurysm can happen to anyone, but most often found in men aged 40-70 years.In children, aneurysms can occur due to blunt abdominal injury...

DEFINITIONSZinc is distributed in the body because it is a component of over 100 enzymes, including enzymes that play a role in the synthesis of RNA and DNA.A vast network of zinc are bone, liver, prostate and testicles.Zinc levels in the blood depending on the amount of zinc in the diet.Meat, liver, eggs and seafood is a source of food that contains lots of zinc.Not milled rice contains substances such as fiber and phosphate, which inhibits the absorption of zinc.Consuming clay, a habit that made by certain people, inhibit the absorption of zinc and lead zinc deficiency in the body.Disorder Akrodermatitis enteropatika is derived, which can not be absorbed zinc, also cause a deficiency of zinc.Symptoms include:- Loss of appetite- Hair loss- Dermatitis- Nyctalopia- Disturbance tasting.Reproductive...