{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T05:23:25Z","timestamp":1761110605615,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T00:00:00Z","timestamp":1627344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, developmental delay, and mild dysmorphic features. Characteristic biochemical findings included hypoglycemic hyperinsulinism, cholestasis, elevated liver functions, methionine, S\u2010adenosylhomocysteine, and S\u2010adenosylmethionine, with normal or mildly elevated homocysteine level. Brain imaging demonstrated atrophy, hydrocephalus, and delayed myelination. There are 26 reported patients of ADK deficiency, of which 14 patients were placed on a methionine\u2010restricted diet. Clinical improvement with methionine restriction was not well described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>We report an infant who presented at birth with persistently elevated ammonia (100\u2010163\u2009\u03bcmol\/L), hypoglycemia, cholestasis, and liver dysfunction. The initial metabolic and genetic work\u2010up was nondiagnostic, with only a mildly increased plasma methionine level (51 [&lt;38\u2009\u03bcmol\/L]). Iron depositions in the liver and in lip mucosa led to suspicion of gestational alloimmune liver disease. Immunoglobulin therapy and exchange transfusion treatments demonstrated transient clinical and biochemical improvements. However, subsequent episodes of acute liver failure with development of neurological abnormalities led to further evaluation. Metabolic studies showed a 25\u2010fold increase in plasma methionine level at 8\u2009months of life (1022 [&lt;38\u2009\u03bcmol\/L]) with white matter abnormalities on brain MRI. Expanded molecular testing identified the disease. Urinary purines profile showed elevations of adenosine and related metabolites. Introduction of a low\u2010methionine diet resulted in rapid clinical amelioration, improvement of brain MRI findings, and normalization of liver functions and methionine levels.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12238","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T12:29:22Z","timestamp":1627388962000},"page":"52-59","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical utility of methionine restriction in adenosine kinase deficiency"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1204-3748","authenticated-orcid":false,"given":"Najmah","family":"Almuhsen","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Specialized Medicine McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon\u2010pierre","family":"Guay","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Specialized Medicine McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Lefrancois","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Specialized Medicine McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Gauvin","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Specialized Medicine McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AL Qasim","family":"Al Bahlani","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Department of Pediatrics McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najma","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Department of Pediatrics McGill University Health Center  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Saint\u2010Martin","sequence":"additional","affiliation":[{"name":"Department of Radiology McGill University Health Center, Montreal Children's Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommy","family":"Gagnon","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Department of Pediatrics and of Laboratory Medicine Universit\u00e9 de Sherbrooke\u2010CHUS  Sherbrooke Quebec 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