Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene.

Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. J Clin Res Pediatr Endocrinol. 2016 Apr 18; Authors: Nur BG, Celmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mihci E Abstract Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult, and is often missed out or delayed. It is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated with the age at diagnosis and the lack of tissue-nonspecific alkaline phosphatase (TNSALP) activity, and severe forms of hypophosphatasia are primarily perinatal and infantile forms. Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. In our article, we presented an infantile hypophosphatasia patient presenting with pyridoxine responsive seizures with a novel homozygous mutation in the ALPL gene. There is a limited number of hypophosphatasia patients with pyridoxine responsive seizures in the literature so early diagnosis of infantile hypophosphatasia in the clinically compatible patients allows more effective postnatal care/ mana...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research