A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.
Charles R DiFalco, Aaron Williams, Claudia Soler-Alfonso et al.
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Case in brief
An infant presented with lactic acidosis, refractory epilepsy with encephalopathy, hyperglycinemia, and severe pulmonary arterial hypertension. Rapid genome sequencing identified compound heterozygous NFU1 variants, supporting a diagnosis of multiple mitochondrial dysfunctions syndrome 1 (MMDS1), an autosomal recessive disorder involving impaired iron-sulfur cluster protein function. The report also reviewed published MMDS1 cases and research into the cellular effects of defective iron-sulfur cluster proteins; the abstract does not describe the patient’s subsequent clinical course or resolution.
What made this case unusual
The combination of severe pulmonary arterial hypertension with lactic acidosis and hyperglycinemia is a notable presentation of MMDS1; the mechanism underlying the frequent association with pulmonary hypertension remains unclear.
Diagnostic / clinical pearl
In an infant with lactic acidosis, pulmonary arterial hypertension, and hyperglycinemia, consider an iron-sulfur cluster pathway defect; rapid genome sequencing can identify NFU1 variants consistent with MMDS1.