NICOTINAMIDE ADENINE DINUCLEOTIDE DEFICIENCY

Question 1

What is  NICOTINAMIDE ADENINE DINUCLEOTIDE DEFICIENCY?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nicotinamid-Adenin-Dinukleotid-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN ---

Disease	NICOTINAMIDE ADENINE DINUCLEOTIDE DEFICIENCY
OMIM	--- OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
ICD
Summary	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]
Laboratory findings	3-Hydroxyanthranilic acid normal/inc (plasma) 3-Hydroxykynurenine normal/inc (plasma) Nicotinamide adenine dinucleotide dec (plasma)
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 or anomalies