adenosine kinase deficiency

Adenosine kinase deficiency is a rare inborn error of metabolism. It is marked by persistently high levels of methionine, S-adenosylmethionine, and S-adenosylhomocysteine in the blood. People with this condition can experience a range of symptoms, which may include problems with the brain and development, and changes in facial features. In many cases, the condition shows up with severe developmental delays, problems with muscle tone (hypotonia), and distinctive facial characteristics such as a prominent forehead (frontal bossing), a larger head (macrocephaly), wide-set eyes (hypertelorism) and a depressed nasal bridge. In some individuals, there may be additional issues affecting the liver, heart, or blood sugar levels. The severity of the symptoms can vary, with some people experiencing mainly neurological issues while others have more multi-organ involvement.

Common symptoms include encephalopathy (a condition that affects the brain), severe global developmental delay, and low muscle tone. People with this condition may have mild to severe liver dysfunction and characteristic facial features such as a prominent forehead, enlarged head, wide-set eyes, and a depressed nasal bridge. Seizures, low blood sugar (hypoglycemia), and certain heart defects such as pulmonary stenosis or septal defects have also been observed.

Adenosine kinase deficiency is caused by a change in the ADK gene. This gene normally helps in processing substances in the body such as methionine. The disorder is inherited in an autosomal recessive manner, which means that a child must inherit the altered gene from both parents to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.