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Summary
RIBOFLAVIN DEFICIENCY RBFVD
MATERNAL RIBOFLAVIN DEFICIENCY
615026
OMIM = Online Medalian Inheritance of Men
411712
17p13.2
rare
very rare
autosomal dominant
mutation in the SLC52A1 gene
Haploinsufficiency of this riboflavin transporter causes mild riboflavin
deficiency, and when coupled with nutritional riboflavin deficiency in
pregnancy, resulted in the transient riboflavin-responsive disease (Glutaric aciduria II) seen
in her newborn infant [Ho G et al. 2011]
symptoms
feeding difficulties, poor feeding
hypoglycemia
metabolic acidosis
no consistent clinical signs or symptoms
onset, adulthood
onset, neonatal
laboratory finding
Dicarboxylic acids
Acylcarnitine increasedplasma
Literature
Strandqvist A,et al.Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) DeficiencyJIMD Rep28075-842016
Fukao T,et al.Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass SpectrometryJIMD Rep30107-1152012