TN 8 (11-12)
DI 23022.971 NFU-1 Mitochondrial Disease
COMPASSIONATE ALLOWANCE INFORMATION
NFU-1 MITOCHONDRIAL DISEASE
Multiple Mitochondrial Dysfunction Syndrome 1; Multiple Mitochondrial Dysfunction Syndrome Type 1; MMDS 1; NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
NFU-1 Mitochondrial Disease (NFU-1) is an inherited disease caused by a mutations in the gene NFU1, resulting in multiple mitochondrial dysfunctions syndrome type 1 (MMDS1), a severe disorder of systemic energy metabolism. This disorder is characterized by general weakness, respiratory failure, and lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some children may show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: Blood or urine testing for lactic acidosis; hyperglycinemia carnitine analysis and amino acid analysis; cerebral imaging; and muscle biopsy.
Physical findings: Clinical features include failure to thrive; pulmonary hypertension; and developmental delay; or neurological regression.
ONSET AND PROGRESSION
Multiple mitochondrial dysfunction syndrome type 1 is a severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, and early death, usually before the age of 2 years.
There is no cure for this disorder. Treatment is supportive and dependent on the symptomology.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and examination that describes the diagnostic features of the impairment.
Laboratory testing showing results of genetic chromosome testing or enzyme analysis are needed to confirm the diagnosis.
Suggested Listings for Evaluation:
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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.