NFU-1 MITOCHONDRIAL DISEASE

ALTERNATE NAMES

MMDS 1; Multiple Mitochondrial Dysfunction Syndrome 1; Multiple Mitochondrial Dysfunction Syndrome Type 1; NFU1 Iron-Sulfur Cluster Scaffold hoHmolog (S. cerevisiae)

DESCRIPTION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

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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  Cerebral imaging; and

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  Muscle biopsy.

Physical findings:

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  General weakness;

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  Respiratory failure;

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  Lactic acidosis;

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  Hyperglycinemia (elevated glycine levels);

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  Hypotonia (floppy muscle tone);

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  Irritability;

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  Failure to thrive;

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  Pulmonary hypertension;

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  Developmental delay; or

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  Neurological regression.

ICD-9: 277.87

ICD-10: E88.40

PROGRESSION

MMDS1 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 two years.

TREATMENT

There is no cure for this disorder. Treatment is supportive and dependent on the symptomology.

SUGGESTED PROGRAMMATIC ASSESSMENT*

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.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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110.08 B

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