Adenosine kinase deficiency (ADK) is an autosomal recessive disorder of methionine metabolism which results in elevated methionine levels and liver damage. Effected child has dysmorphic features and is developmentally delayed due to central nervous system involvement. Repeated jaundice and URTIs are commonly reported symptoms. The disease needs to be confirmed through genetic analysis and diagnosed cases can be offered methionine free diet as the only known treatment option which does not result in complete recovery; however, it can sometimes improve liver functions and overall quality of life. A case of 9-year-old Pakistani girl is reported with characteristic features of ADK deficiency, she was developmentally delayed, had tall stature, Developmental dysplasia of the hip (DDH), muscular hypotonia, epilepsy and hepatic dysfunction along with some rare features not commonly found in other reported cases. She worsened over one month period and passed away due to decompensated liver disease. This report would help the clinicians decide when the testing for ADK deficiency is required, and how an early diagnosis can control the worsening of symptoms and prolong life expectancy.

TBA