Vertebral, Cardiac, Renal and Limb Defects Syndrome 2
Autoszomális recesszív
Caused by changes in both copies of KYNU, an enzyme in the pathway that makes NAD from the amino acid tryptophan. Low NAD during embryonic development disrupts formation of several organs.
Tünetek és jelek
Vertebral segmentation defects, heart defects, kidney anomalies and limb differences are typical, sometimes with short stature. Some children have developmental delay. Raised levels of xanthurenic acid, a tryptophan breakdown product, can be found in urine.
Mit változtat a diagnózis
Care addresses each birth defect, with cardiac, renal and orthopaedic follow-up. In animal studies niacin supplementation in pregnancy prevented similar defects, but this has not been established in people. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
VCRL2
