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Disability Benefits for Glycogen Storage Disease Type I

Social Security Disability Lawyers: Riverside, OC & San Bernardino Counties

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas).

People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant).

Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a.

Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa.

https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i

ESSENTIAL MEDICAL DOCUMENTATION FOR DISABILITY BENEFITS NEEDED:
  • How far can you walk?
  • How long can you stand? Do you need a cane/walker to ambulate?
  • How much can you lift and carry? 
  • Do you have difficulty reaching, bending, squatting, stooping? Describe.
  • What is your average daily fatigue level? Average fatigue?
  • Do you have grabbing or grasping difficulty (dropping things)?
  • SSA utilizes the term "Impairments" (and resulting "limitations" - why you cannot work) are the essential bits of information that must be clearly and consistently documented throughout your medical history by the treating sources (medical doctors, psychologists, psychiatrists).

SSA additionally utilizes the term "Residual Functional Capacity" (RFC); this is a key concept related to the resulting physical and/or mental impairments from conditions for which the disability claim is based upon and the impact upon ability to work. 

 

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