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.

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:

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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

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:

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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:

REMARKS