Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency

Article Abstract:

The metabolic derangements that occur in adenosine deaminase deficiency may cause liver dysfunction. Adenosine deaminase deficiency is a genetic disorder that leads to immune system abnormalities. A newborn baby developed oral Candida infection, an enlarged liver and jaundice by the time he was three weeks old. At seven weeks, he weighed less than he had at birth and was below the fifth percentile in length and head circumference. Analysis of a sample of blood cells revealed undetectable activity of adenosine deaminase, which led to elevated levels of deoxyadenosine nucleotides. He was diagnosed with adenosine deaminase deficiency. A liver biopsy revealed enlarged liver cells but no evidence of viral infection was found. No other cause of liver disease was identified. He was treated with PEG-ADA, which replaces the missing enzyme. His liver function returned to normal and at the age of 23 months, he had attained normal height and weight for his age.

Causes of, Complications and side effects, Liver diseases, Adenosine deaminase deficiency, ADA deficiency

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Structural variation in the human genome

Article Abstract:

The completion of the reference sequence of the human genome and the development of new technologies to identify the extent and position of genomic alterations within a single human genome demonstrate that large portions of the genome are deleted or duplicated. Studies reveal that such genomic rearrangements can change the copy number of the genes that lie within the affected regions and alter gene regulation.

Science & research, England, Research, Technology application, Genetic regulation, Human genome, Genetic variation

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