In this article,1 the Table 1 was erroneously not included in the published version.
Table 1.
gene (mode of inheritance) | protein | main clinical findings | |
---|---|---|---|
neurotransmitter biosynthesis | SLC5A7 (ar, ad) | CHT1 = high affinity choline transporter | congenital myasthenic syndrome (muscular hypotonia and weakness, apnoea, ptosis, poor sucking and swallowing; ar), hereditary motor neuronopathy (ad) |
CHAT (ar) | CHAT = choline acetyltransferase | congenital myasthenic syndrome (see above) | |
phospholipid biosynthesis | SLC44A1 (ar) | CTL1 = choline transporter like protein 1 | postural orthostatic tachycardia syndrome |
CHKB (ar, SNPs) | CHKB = Choline kinase beta | muscular dystrophy, susceptibility to narcolepsy (SNPs) | |
PCYT1A (ar) | PCYT1A = choline‐phosphate cytidyltransferase A | cone‐rod dystrophy, either isolated or in combination with spondylometaphyseal dysplasia, congenital lipodystrophy, fatty liver, severe insulin resistance, and diabetes | |
CEPT1 (ar) | C/EPT1 = choline/ethanolamine phosphotransferase 1 | hereditary spastic paraparesis, developmental delay, intellectual disability, dysarthria, retinal pigmentary abnormalities and cone rod dystrophy | |
pyrimidine metabolism | CAD (ar) | CAD = carbamoyl phosphate synthetase/ aspartate transcarbamoylase/ dihydroorotase | epileptic encephalopathy, anaemia, intellectual disability, loss of skills |
DHODH (ar) | DHODH = dihydroorotate dehydrogenase | postaxial acrofacial dysostosis (Miller syndrome) | |
UMPS (ar) | UMPS = uridine monophosphate synthase | anaemia | |
methylation | ALDH7A1 (ar) | ALDH7A1 = aldehyde dehydrogenase | pyridoxine dependant epilepsy, intellectual disability |
DMGDH (ar) | DMGDH = Dimethylglycine dehydrogenase | malodour | |
GNMT | Glycine N‐methyltransferase deficiency | mild hepatomegaly and chronic elevation of serum transaminases | |
fish odour disease | FMO3 (ar) | FMO3 = flavin‐containing monooxygenase | malodour |
Here is the omitted Table 1:
We apologize for this error.
REFERENCE
- 1. Wortmann SB, Mayr JA. Choline‐related‐inherited metabolic diseases—A mini review. J Inherit Metab Dis. 2019;42:237‐242. [DOI] [PMC free article] [PubMed] [Google Scholar]