Program Operations Manual System (POMS)
TN 32 (08-20)
DI 23022.971 NFU-1 Mitochondrial Disease
COMPASSIONATE ALLOWANCES INFORMATION
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NFU-1 MITOCHONDRIAL DISEASE
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ALTERNATE NAMES
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Multiple Mitochondrial Dysfunction Syndrome 1; Multiple Mitochondrial Dysfunction
Syndrome Type 1; MMDS 1; NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
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DESCRIPTION
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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.
Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases,
defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory
chain complexes.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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Blood or urine testing for lactic acidosis;
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Hyperglycinemia carnitine analysis and amino acid analysis;
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Physical findings:
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Hyperglycinemia (elevated glycine levels);
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Hypotonia (floppy muscle tone);
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ICD-9: 277.87
ICD-10: E88.40
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PROGRESSION
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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.
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TREATMENT
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There is no cure for this disorder. Treatment is supportive and dependent on the symptomology.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
and
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Laboratory testing showing results of genetic chromosome testing or enzyme analysis
are needed to confirm the diagnosis.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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