COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c.950>G (Pro317Arg) in the MRPL3 gene and a novel heterozygous mutation NM_007208 c.49delC p.(Arg17Aspfs*57). Mutations in MRPL3 have previously been shown to alter ribosome assembly and cause abnormal function of multiple respiratory chain complexes. Our case adds to the evolving knowledge of disorders of mitochondrial translation.
Neuroscience Department, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
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Bursle
Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, 4068, Brisbane, QLD, Australia.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.
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Narendra
Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, 4068, Brisbane, QLD, Australia.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.|The School of Medicine, University of Queensland, Brisbane, QLD, Australia.
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Chuk
Advanced Medical Diagnostics, Brisbane, QLD, Australia.
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Cardinal
The School of Medicine, University of Queensland, Brisbane, QLD, Australia.|Heart Care Partners, The Wesley Hospital, Brisbane, QLD, Australia.|Department of Cardiology, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
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Justo
Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, 4068, Brisbane, QLD, Australia.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.|The School of Medicine, Griffith University, Gold Coast, Nathan, QLD, Australia.
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Lewis
Neuroscience Department, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.|Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, 4068, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.|The School of Medicine, University of Queensland, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.|Advanced Medical Diagnostics, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.|The School of Medicine, Griffith University, Gold Coast, Nathan, QLD, Australia. enquiries@drdavidcoman.com.au.
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Coman