DefinePK

Abstract

Adenosine kinase deficiency 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 standard of living.
A case of 8-year-old Pakistani girl is reported with characteristic features of ADK deficiency, she is developmentally delayed, has tall stature, DDH, muscular hypotonia, epilepsy and hepatic dysfunction along with some rare features not commonly found in other reported cases.
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.