Hypermethioninaemia
Evidence-based neurology checklist on hypermethioninaemia: S-adenosylhomocysteine hydrolase (SAHH) deficiency: features Developmental delay Behavioural disorders Delayed myelination delay Microcephaly Strabismus Myopathy with increased creatine kinase (CK) Cerebellar and pontine hypoplasia…
S-adenosylhomocysteine hydrolase (SAHH) deficiency: features
- Developmental delay
- Behavioural disorders
- Delayed myelination delay
- Microcephaly
- Strabismus
- Myopathy with increased creatine kinase (CK)
- Cerebellar and pontine hypoplasia
- Hypoplastic corpus callosum
- Liver dysfunction
- Coagulopathy
- Hepatocellular carcinoma
- Foetal hydrops
- Respiratory failure
Cystathione beta-synthetase (CBS) deficiency: features
Adenosine kinase (ADK) deficiency: features
Glycine-N-methyltransferase (GNMT) deficiency: features
Methionine adenosyltransferase (MAT) I/III deficiency: features
Acquired causes
Investigations
Treatment
References
- Barić I, Staufner C, Augoustides-Savvopoulou P, et al. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. J Inherit Metab Dis 2017; 40:5-20.
- 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; 89:507-515.
- Staufner C, Lindner M, Dionisi-Vici C, et al. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J Inherit Metab Dis 2016; 39:273-283.
- Mudd SH. Hypermethioninemias of genetic and non-genetic origin: a review. Am J Med Genet C Semin Med Genet 2011; 157C:3-32.
