adenosine kinase deficiency
Findings
No curated finding names adenosine kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.
Definition from the Mondo Disease Ontology (MONDO:0100255), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 6 of 6 reported patients
- Elevated circulating S-adenosyl-L-methionine concentrationHPOHP:0034731
- 6 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 6 of 6 reported patients
- Hyperbilirubinemia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADKHGNC:257
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: adenosine kinase deficiency
- Also called
- ADK deficiencyADK hypermethioninemiaautosomal recessive intellectual disability 8hypermethioninemia due to adenosine kinase deficiencyhypermethioninemia encephalopathy due to adenosine kinase deficiencyhypermethioninemia encephalopathy due to ADK deficiencyMRT8