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Posts Tagged ‘Inborn error of metabolism’

Iron Storage Disease and Receiving Social Security Disability

Tuesday, July 5th, 2011

Iron storage disease is a genetic (inherited) condition that is marked by too much iron accumulating in your body. It is one of the most common genetic diseases in the United States.

Iron is a mineral that is found in many foods. Your body normally absorbs about 10 percent of the iron in the food that you eat. With iron storage disease, you absorb more iron than you require. Your body does not have any natural way to get rid of this excess iron. It becomes stored in your body tissues. This is especially true of your liver, heart and pancreas. This excess iron can result in damage to your organs. Iron storage disease may cause your organs to fail if you do not get treatment for it.

There are different types of iron storage disease. Primary iron storage disease is an inherited disease. It is also known as hereditary iron storage disease. Secondary iron storage disease results from an underlying condition.

Juvenile iron storage disease and neonatal iron storage disease are two additional types of the disease. Juvenile iron storage disease results in severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form of the disease causes rapid iron buildup in a baby’s liver that can lead to death.

Some people with hereditary (primary) iron storage disease never have any signs or symptoms. Other people have a wide range of signs and symptoms. These signs and symptoms may be different for women and men and can vary greatly from person to person.

The early signs and symptoms of iron storage disease are like those of other common conditions. Some of these include:

  • Low thyroid function (hypothyroidism)
  • Lack of normal menstruation in women (amenorrhea)
  • Impotence or loss of libido (sex drive)
  • Stiffness in your joints
  • High blood sugar levels
  • Arthritis, especially in your hands
  • Chronic fatigue
  • Abdominal pain
  • Abnormal liver function tests, even though no signs are present.

Later stages of iron storage disease may result in serious conditions. Some of these include:

  • Liver failure
  • Congestive heart failure
  • Liver cancer
  • Cirrhosis, which is irreversible scarring of your liver
  • Cardiac arrhythmia
  • Discolored skin that is gray or bronze in appearance
  • Diabetes.
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Cori’s Disease and Receiving Social Security Disability

Friday, July 23rd, 2010
Glycogen, a branched polysaccharide
Image via Wikipedia

You or your child with disability may have Cori’s disease. This may be why you are unable to work. This may be the reason for the disability of you or your child with disability.

As a result, you may need help. You may need financial help.

You may have applied for Social Security disability benefits or disability benefits for you or your child with disability from the Social Security Administration because of the disability caused by Cori’s disease. Were you or your child with disability denied?

You may plan on appealing the denial by the Social Security Administration. If you do, think about this.

You or your child with disability will need the help of a skilled disability attorney like the one at disabilitycasereview.com in this process. This is true is because people who are represented by a smart disability lawyer are approved more often than those people who are without an attorney.

Here is a little information about Cori’s Disease.

Cori’s disease is a type of glycogen storage disease. This means that it is an autosomal recessive metabolic disorder and inborn error of metabolism. It is characterized by a deficiency in glycogen debranching enzymes.

Cori’s disease is a genetically linked metabolic disorder that involves the enzymes regulating glycogen metabolism, like the other glycogen storage diseases. These enzymes affect the processing of glycogen breakdown or synthesis within your liver, ahaha muscles and other cell types.

Each step in the process involves a different enzyme. The process stops if any one of these enzymes is defective and does not complete its step. The type of glycogen storage disease is determined by which enzyme is defective.

Cori’s disease is a rare disease occurring in 1 out of every 100,000 live births. It involves a missing enzyme that causes abnormal amounts of glycogen to be deposited in your skeletal muscles, liver and heart. This can stunt growth and lead to an enlarged liver, acidosis and hypoglycemia.

Cori’s disease is named in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. It is also called Forbes disease in honor of a clinician who further described the features of this disorder. Other names are limit dextrinosis and glycogen storage disease type III.

The clinical course of the disease is similar to that of glycogen storage disease type I. It is generally, but not always, milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in your liver, muscle and erythrocytes.

There are several effects that are caused by Cori’s disease. Some of these are:

  • An enlarged fatty liver
  • Elevated levels of lactate, lipids and uric acid in your blood
  • Low blood sugar
  • Impairment in growth
  • Delaying of puberty
  • Bones weakened by osteoporosis.

It also causes an enlarged heart and muscles prone to wasting. Muscle wasting usually increases with age while other symptoms improve.

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Glycogen Storage Diseases and Receiving Social Security Disability

Wednesday, May 26th, 2010
Glycogen, a branched polysaccharide
Image via Wikipedia

Glycogen serves as the primary fuel reserve for the energy needs of your body. Glycogen storage diseases are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. They affect the processing of glycogen synthesis or breakdown within muscles, liver and other cell types.

There are more than 10 types of glycogen storage diseases. The most common forms are Types I, II, III, and IV. These are thought to account for more than 90% of all cases.

The types of glycogen storage diseases include:

  • Type Ia, or von Gierke’s disease may affect you with an enlarged fatty liver, elevated levels of lactate, lipids and uric acid in your blood, low blood sugar, impairment in growth, delaying of puberty and bones weakened by osteoporosis. Gout, liver cancer, liver tumors and chronic renal disease may develop.
  • Type Ib is similar to Type Ia. In addition, your immune system is weakened and there is the danger of bacterial infections like gum and mouth infections, pneumonia and inflammatory bowel disease.
  • Type II, or Pompe’s disease or acid maltase deficiency, is classified according to the age of onset.
  • Type III, or Cori’s disease has effects that are similar to Type 1a. It also causes an enlarged heart, muscles prone to wasting and high levels of lipids in your blood.
  • Type IV, or Andersen’s disease is usually fatal to infants.
  • Type V, or McArdle’s disease may affect you with muscle weakness and cramping caused by exercise and burgundy-colored urine after exercise.
  • Type VI, or Hers’ disease may affect you by causing low blood sugar, mildly retarded growth and an enlarged liver.
  • Type VII, or Tarui’s disease has effects that are similar to type V, but also include increased levels of uric acid and anemia.
  • Types VIII and XI have symptoms similar to Type VI.
  • ·Type IX has effects that are similar to Type VI.
  • Type X has effects that are like Type VI and IX.

You or a loved one may have a glycogen storage disease. It may be the reason you or your loved one is disabled and unable to work.

If this is true, you or your loved one may need assistance. You may need financial help.

You or your loved one may have applied for that help from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability caused by a glycogen storage disease. Were you or your loved one denied?

If you or your loved one is going to appeal the denial by the Social Security Administration, here is something that you need to consider. People who are represented and aided by a disability attorney like the one you will find here are approved more often than those people who do not have a lawyer.

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Andersen’s Disease and Receiving Social Security Disability

Tuesday, January 12th, 2010
National Library of Medicine picture of Doroth...
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Andersen’s disease is a type of glycogen storage disease. This indicates that it is an autosomal recessive metabolic disorder. It is an inborn, hereditary error of metabolism that is characterized by a deficiency in glycogen debranching enzymes.

Instead of glycogen, an abnormal form called amylopectin is produced and builds up in your body tissues. This happens primarily in your heart and liver.

Andersen’s disease is named after Dorothy Hansine Andersen. She was the first person to identify cystic fibrosis and the first American physician to describe the disease. Other names for this disease are glycogen storage disease type IV, glycogen branching enzyme deficiency (GBED), polyglucosan body disease and amylopectinosis.

Andersen’s disease is an extremely rare disease. There are only 1 to 9 cases for every 1 million people.

Andersen’s disease is a genetically linked metabolic disorder. Like the other glycogen storage diseases it involves the enzymes regulating glycogen metabolism. These enzymes affect the processing of glycogen breakdown or synthesis within your liver, ahaha muscles and other cell types.

Each step in the process uses a different enzyme. The process stops if any one of these enzymes is defective and does not complete its step. The type of glycogen storage disease is determined by which enzyme is defective.

Andersen’s disease can affect you by causing cirrhosis and liver failure. There are also several other ways in which this condition can affect you. Some of these are by causing:

  • Gastrointestinal problems
  • Lack of infant muscle tone
  • Muscular atrophy
  • An enlarged liver
  • Poor infant weight gain
  • Failure of an infant to thrive
  • An enlarged spleen
  • Abnormal fluid buildup in the abdomen
  • Edema (swelling)
  • Neurological abnormalities
  • Reduced tendon reflexes.

These effects produced by Andersen’s disease may have reached a point where they are preventing you from working. Andersen’s disease may be the cause of the disability of you or your child with disability.

If this is true, you may need help. You may need financial assistance.

Have you applied for the financial help that you need from the Social Security Administration by applying for Social Security disability benefits because of the disability caused by Andersen’s disease? Were you or your child with disability denied?

You may be thinking about appealing the denial by the Social Security Administration. If this is what you decide to do, here is something that you need to think about.

You or your child with disability may need a disability lawyer like the one at disabilitycasereview.com to guide and advise you in what can be a long and trying process. The reason this is true is because people who are helped and represented by a disability attorney are approved more often than those people who do not have a lawyer.

This is something that could affect you or your child with disability for the rest of your life. Do not delay. Contact the good disability attorney at disabilitycasereview.com, today.

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