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Summary
NICOTINAMIDE ADENINE DINUCLEOTIDE DEFICIENCY
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations
in mice [Shi H et al. 2017]
symptoms
cardiac involvement, cardiac defects
hearing defect, deafness
limb abnormalities, limb deformities
low set ears
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
renal dysfunction, renal defects
short stature
vertebral changes
laboratory finding
3-Hydroxyanthranilic acid normal-increasedplasma
3-Hydroxykynurenine normal-increasedplasma
Nicotinamide adenine dinucleotide decreasedplasma
Literature
Leuzzi V,et al.Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?JIMD Rep15039-452015