title: Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.
abstract: Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in theMPV17andDGUOKgenes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (ADK) gene revealed a previously unreported variant (c.479-480 GA>TG) resulting in a stop codon (p.E160X) inADK. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.
authors: Department of Pediatric Endocrinology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, IR Iran.
authors: Marjan
authors: M
authors: Shakiba
authors: Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
authors: Fatemeh
authors: F
authors: Mahjoub
authors: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, IR Iran; Instituto de Neurociencias CSIC-UMH, San Juan de Alicante, Spain.
authors: Hassan
authors: H
authors: Fazilaty
authors: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, IR Iran.
authors: Fereshteh
authors: F
authors: Rezagholizadeh
authors: Medical Student Research Committee (MSRC), Iran University of medical sciences (IUMS), Tehran, Iran.
authors: Arghavan
authors: A
authors: Shakiba
authors: Nutrition Department at International campus, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
authors: Maryam
authors: M
authors: Ziadlou
authors: Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA.
authors: William A
authors: WA
authors: Gahl
authors: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, IR Iran; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA.
authors: Babak
authors: B
authors: Behnam