Adenosine Kinase Deficiency: Report and ReviewFunding Sources No funding for this article from any institution or agency.
01 July 2018
15 October 2018
26 November 2018 (online)
Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.
Ethics Approval and Consent to Participate
This study was approved by the institutional review board office at King Abdullah International Medical Research Centre (KIMARC; study number: RC16/113/R).
Conflict of Interests
A.A.: wrote the first draft and edited the subsequent version of the manuscript.
A.O.: collected the clinical data and edited the manuscript.
A.W.: edited the manuscript and reviewed the clinical data.
H.J.B.: edited the manuscript and reviewed the clinical data.
M.A.: supervised the work associated with preparing, writing, and submitting the manuscript and contributed to the clinical diagnosis and management of the patient.
All authors have read and approve the final draft of the manuscript.
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