Choline‐related‐inherited metabolic diseases—A mini review

Abstract

In humans, the important water soluble, vitamin‐like nutrient choline, is taken up with the diet or recycled in the liver. Deficiencies of choline have only been reported in experimental situations or total parenteral nutrition. Currently, no recommended dietary allowances are published; only an adequate daily intake is defined. Choline is involved in three main physiological processes: structural integrity and lipid‐derived signaling for cell membranes, cholinergic neurotransmission, and methylation. Choline is gaining increasing public attention due to studies reporting a relation of low choline levels to subclinical organ dysfunction (nonalcoholic fatty liver or muscle damage), stunting, and neural tube defects. Furthermore, positive effects on memory and a lowering of cardiovascular risks and inflammatory markers have been proposed. On the other hand, dietary choline has been associated with increased atherosclerosis in mice. This mini review will provide a summary of the biochemical pathways, in which choline is involved and their respective inborn errors of metabolism (caused by mutations in SLC5A7, CHAT, SLC44A1, CHKB, PCYT1A, CEPT1, CAD; DHODH, UMPS, FMO3, DMGDH, and GNMT). The broad phenotypic spectrum ranging from malodor, intellectual disability, to epilepsy, anemia, or congenital myasthenic syndrome is presented, highlighting the central role of choline within human metabolism.

Choline: An Essential Nutrient for Skeletal Muscle

“…Choline is an essential nutrient with many biological implications as a structural component of cells membrane, as a precursor of cholinergic neurotransmitters and as a main actor of methylation pathways [ 26 ]. Therefore, this micronutrient has a pivotal role in liver, neurological, and hematological functions [ 27 , 28 , 29 ]. However, the effects of choline on skeletal muscle are still not well known.…”

Altered Metabolic Characteristics in Plasma of Young Boys with Autism Spectrum Disorder

“…Choline is involved in three main physiological processes: the structural integrity and lipid-mediated signaling for cell membranes, the synthesis of neurotransmitter acetylcholine, and methylation (as a major methyl donor) (Wiedeman et al, 2018;Wortmann & Mayr, 2019). Evidence suggests that low choline is related to several adverse health outcomes including neural tube defects, brain development and cognition alterations, metabolic diseases, and cancer (Leermakers et al, 2015;Ueland, 2011).…”

High-Fat Diet Alters the Retinal Transcriptome in the Absence of Gut Microbiota

“…Single nucleotide polymorphisms (SNPs) in Cuzd1 have been associated with risk of age-related macular degeneration [98]. Dmgdh (dimethylglycine dehydrogenase) is involved in choline metabolism important in neurotransmitter and phospholipid biosynthesis [99]. Dmgdh was identified as part of a set of differentially expressed genes in the mitochondrial transcriptome human retinas with diabetic retinopathy [100].…”