KEGG DISEASE: Riboflavin deficiency

KEGG

DISEASE: Riboflavin deficiency

Entry

H02544                      Disease

Name

Riboflavin deficiency

Subgroup

Brown-Vialetto-Van Laere syndrome [DS:H01903]

Description

Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations in the riboflavin metabolism or transportation of riboflavin can cause multiple acyl-CoA dehydrogenation deficiency [DS:H00178]. The most common variations are located in the riboflavin transporter 2 (RFVT2) and 3 (RFVT3), that are highly expressed in brain and intestinal tissues, respectively [DS:H01903]. Deficiency of RFVT1, encoded by the SLC52A1 gene, highly expressed in the placenta, has also been reported.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Undernutrition
    5B5B  Vitamin B2 deficiency
     H02544  Riboflavin deficiency

Gene

SLC52A1 [HSA:55065] [KO:K22117]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS

Title

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Journal

Mol Genet Metab 122:182-188 (2017)
DOI:10.1016/j.ymgme.2017.10.014

Reference

Authors

Mosegaard S, Dipace G, Bross P, Carlsen J, Gregersen N, Olsen RKJ

Title

Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Journal

Int J Mol Sci 21:E3847 (2020)
DOI:10.3390/ijms21113847

LinkDB

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