Analysis of a female neonate with pyruvate dehydrogenase complex deficiency / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate.</p><p><b>METHODS</b>The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives.</p><p><b>RESULTS</b>The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c.1133G to A (p.R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low.</p><p><b>CONCLUSION</b>The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases.</p>