Novel homozygous mutation causing mitochondrial DNA

A novel homozygous mutation c662 672del in DGUOK gene causing mitochondrial DNA depletion syndrome of type hepatocerebral [ A case report ]

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Journal: Clinics and Research in Hepatology and Gastroenterology

Volume 48, Issue 4, April 2024, 102319

Authors: Kandula Radhakrishna aBatchu Rajsekhar aK. V. Raja Ramesh aNeelima Chitturi bSandhya Kiran Pemmasani bAnuradha Acharya b

The proband was born to third-degree consanguineous parents. Since day 18 after birth, the infant has had soft and palpable liver, cholestasis, failure to thrive, yellowish skin, dark-colored stool, dark yellow urine icterus of conjunctiva, buccal mucosa, palms, and soles and all over the body and no focal neurological deficit. The liver function tests showed hyperbilirubinemia with abnormally high liver enzymes – indicative of severe liver disorder and metabolic acidosis. Results of various biochemical tests are provided in Table 1. Hepatobiliary iminodiacetic acid scan has indicated neonatal hepatitis. The proband was recommended for whole exome sequencing to identify the genetic etiology for the current phenotype. Unfortunately, the proband expired at the age of 6 months.

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