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. 2020 Jan 20;43(1):156. doi: 10.1002/jimd.12170

ERRATUM

PMCID: PMC8094199  PMID: 31958350

In this article,1 the Table 1 was erroneously not included in the published version.

Table 1.

Overview on human disorders in relation to choline metabolism

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


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