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Nonketotic Hyperglycinemia and Social Security Disability

Nonketotic Hyperglycinemia and the Social Security Disability Compassionate Allowances Program

Prior to the introduction of the SSA’s Compassionate Allowances program, each and every disability claim that came in to the SSA was processed according to the exact same standards. In 2008, the Social Security Administration (SSA) recognized that those with severely disabling conditions often couldn’t survive the standard wait time for disability benefits. The SSA fixed this flaw by implementing the Compassionate Allowances program. Under this program, individuals who suffer from certain severe conditions are able to qualify for Social Security Disability benefits in as little as 10 days. When the Compassionate Allowances program first began, there were only 50 conditions that qualified for Compassionate Allowances processing. Today that list includes approximately 200 conditions and illnesses. Among these is Nonketotic Hyperglycinemia.

Nonketotic Hyperglycinemia Condition and Symptoms

Nonketotic hyperglycinemia, also referred to as NKH, is a genetic disorder that is characterized by abnormally high levels of the amino acid glycine. Glycine is a neurotransmitter that transmits signals to the brain. Nonketotic hyperglycinemia is the result of mutations in the AMT and GLDC genes. This results in a shortage of the enzyme that normally breaks down the glycine in the body. This in turn results in excessive glycine buildup in tissues and organs, particularly the brain.

There are several forms of NKH. Each is distinguished by the patient’s age during the condition’s onset as well as the severity of the associated symptoms. NKH symptoms commonly include:

  • Developmental delay
  • Cognitive impairments
  • Weak muscle tone
  • Seizures
  • Brain malformations

Applying for Social Security Disability Benefits with Nonketotic Hyperglycinemia

To be approved for Social Security Disability benefits with NKH, an applicant must provide the SSA with adequate medical documentation. This documentation is needed as proof of the severity of the applicant’s condition. In a case of nonketotic hyperglycinemia, you must provide the SSA with:

  • Enzyme or DNA analysis
  • Laboratory findings of elevated plasma, urine and CSF glycine concentrations
  • A clinical history and examination that describes the diagnostic features and physical findings of the disease—including seizures, movement disorders, spasticity in the muscles of the legs, hips and pelvis, optic atrophy and developmental delays with intellectual disability.

Unfortunately there is no cure for NKH. Treatment is aimed to improve the patient’s quality of life. During the first two years of life treatment with sodium benzoate may be provided to help reduce plasma concentration of glycine. Antiepileptic drugs, gastrostomy tube feeding, physical therapy and occupational therapy are among the other various treatment options available.

Nonketotic Hyperglycinemia and Your Social Security Disability Case

Although having legal representation is not required to apply for Social Security Disability benefits, not having an attorney or advocate may be detrimental to your claim. The SSA doesn’t often deny benefits to those with Compassionate Allowance conditions, however, any mistakes or errors in documentation may compromise your application and you will be denied.

A lawyer will help you complete the necessary paperwork and will make sure that your case is presented to the SSA in the best light possible. Your lawyer will also be able to help you collect sufficient medical evidence to complete your claim.

Click here to receive a free evaluation of your Social Security Disability case.