DI 23022: Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
TN 16 (03-18)
COMPASSIONATE ALLOWANCE INFORMATION | |
ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY | |
DESCRIPTION |
Ornithine Transcarbamylase (OTC) Deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea cycle. In most cases the early symptoms appear within the first three days of life and include respiratory distress, feeding difficulty, hypotonia, lethargy, and death in untreated cases. Neonatal hyperammonemic coma lasting longer than 48 hours usually results in cortical atrophy and intellectual disability. Accumulation of ammonium in the brain and blood usually follows a protein load or intermittent infection. OTC deficient patients are particularly sensitive to toxic effects of valproate. |
ALTERNATE NAMES |
Hyperammonemia Type II, Hyperammonemia due to Ornithine Transcarbamylase Deficiency, Ornithine Carbamyltransferase Deficiency |
DIAGNOSTIC TESTING AND CODING |
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TREATMENT |
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PROGRESSION |
Morbidity and mortality are high, especially in individuals with the neonatal form. |
SUGGESTED PROGRAMMATIC ASSESSMENT* | ||
Suggested MER for Evaluation: Clinical evaluation should include a description of physical and developmental findings, and current pediatric and neurological examination. Routine Laboratory tests will help rule out other disorders and MRI findings may be characteristic of ALX. | ||
Suggested Listings for Evaluation: | ||
DETERMINATION |
LISTING |
REMARKS |
Meets Listing |
110.08 |
Laboratory and clinical findings consistent with OTC deficiency and progressive encephalopathy with or without treatment. |
Medical Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator. |