ba0006p038 | (1) | ICCBH2017
Jacobs Benjamin
, Gall Angela
, Peeva Daniela
, Lacassagne Sandrine
, Talwar Dinesh
, Wakeling Emma L
, Tenorio Jair
, Mughal M Zulf
Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...