Skip to main content
Top

17-06-2024 | Correspondence

Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency

Authors: Vykuntaraju K. Gowda, Sharath Babu, Uddhava Kinhal, Varunvenkat M. Srinivasan

Published in: Indian Journal of Pediatrics

Login to get access

Excerpt

To the Editor: Adenosine kinase (ADK) deficiency presents with seizures, global developmental delay, and dysmorphic facies [1]. Less than 30 cases are reported in literature and none from India. A nine-month-old girl born of consanguinity was evaluated for fever, encephalopathy, seizures, and hepatomegaly with elevated liver enzymes [alanine aminotransferase (ALT): 1210 U/L (normal: 13–45 U/L) and aspartate aminotransferase (AST): 553 U/L (normal: <40 U/L)] and managed conservatively. At 11 mo of age, she was readmitted for similar complaints of fever and jaundice, and tandem mass spectroscopy revealed elevated levels of methionine (729 µMol/L; Ref. 1.00–44.00 µMol/L) and homocysteine of 47 µMol/L (<15 µMol/L) with normal Vitamin B12 level. MRI brain showed diffuse homogenous white matter signal changes with marked diffusion restriction and corresponding signal drop on ADC mapping. Her developmental milestones were delayed from the beginning with developmental quotient (DQ) of 20, at 3 y 6 mo of age. Examination at 3 y 6 mo showed normal anthropometry, frontal bossing, mongoloid slant, broad nasal bridge, hypopigmented sparse hair, and generalized hypotonia with brisk reflexes. Exome sequencing with copy number analysis identified a novel likely pathogenic 48 kb homozygous deletion involving exon 1–3 of ADK gene. Methionine restricted diet was started which resulted in significant improvement in the development, with DQ of 45 and no recurrence of seizures. …
Literature
1.
go back to reference Bjursell MK, Blom HJ, Cayuela JA, et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011;89:507–15.CrossRefPubMedPubMedCentral Bjursell MK, Blom HJ, Cayuela JA, et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011;89:507–15.CrossRefPubMedPubMedCentral
2.
go back to reference Becker PH, Demir Z, Mozer Glassberg Y, et al. Adenosine kinase deficiency: three new cases and diagnostic value of hypermethioninemia. Mol Genet Metab. 2021;132:38–43.CrossRefPubMed Becker PH, Demir Z, Mozer Glassberg Y, et al. Adenosine kinase deficiency: three new cases and diagnostic value of hypermethioninemia. Mol Genet Metab. 2021;132:38–43.CrossRefPubMed
3.
go back to reference Lipiński P, Ciara E, Jurkiewicz D, et al. Case report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: novel phenotypic insights. Front Pediatr. 2022;10:1061043.CrossRefPubMedPubMedCentral Lipiński P, Ciara E, Jurkiewicz D, et al. Case report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: novel phenotypic insights. Front Pediatr. 2022;10:1061043.CrossRefPubMedPubMedCentral
Metadata
Title
Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
Authors
Vykuntaraju K. Gowda
Sharath Babu
Uddhava Kinhal
Varunvenkat M. Srinivasan
Publication date
17-06-2024
Publisher
Springer India
Published in
Indian Journal of Pediatrics
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-024-05190-2