Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Hypermethioninemia can be benign or a severe inborn error of metabolism.
• Genetic causes include mutations in genes like MPV17, DGUOK, and deficiencies in enzymes like cystathionine β-synthase.
• Adenosine kinase (ADK) deficiency is a rare genetic cause of hypermethioninemia.

Purpose of the Study:

• To report a novel genetic variant causing hypermethioninemia.
• To describe the clinical presentation and metabolic consequences of this variant.
• To evaluate the therapeutic effect of a methionine-restricted diet.

Main Methods:

• Clinical case presentation of a 3-year-old girl with severe hypermethioninemia.
• Genetic analysis of the adenosine kinase (ADK) gene.
• Biochemical monitoring of liver function tests and amino acid levels.
• Dietary intervention with a methionine-restricted diet.

Main Results:

• A previously unreported ADK gene variant (c.479-480 GA>TG, p.E160X) was identified.
• The patient presented with severe hypermethioninemia, liver dysfunction, and neurodevelopmental delay.
• A methionine-restricted diet normalized liver function tests and improved hypotonia.

Conclusions:

• Novel ADK gene variants can cause severe hypermethioninemia and related clinical symptoms.
• Adenosine kinase deficiency is a treatable inborn error of metabolism.
• Dietary management is crucial for improving outcomes in patients with ADK deficiency.