Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy
Autor: | Tomomi Kotani, Masahiro Hayakawa, Yuichiro Sugiyama, Kazuto Ueda, Hiroyuki Tsuda, Yukako Muramatsu, Tomonori Ishiguro, Tomoyuki Akiyama, Toshimi Michigami, Kanako Tachikawa |
---|---|
Rok vydání: | 2019 |
Předmět: |
medicine.medical_specialty
Recombinant Fusion Proteins Hypophosphatasia 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Developmental Neuroscience Seizures Internal medicine medicine Humans Enzyme Replacement Therapy Pyridoxine Hydrochloride Pyridoxal business.industry Infant Newborn Pyridoxine ALPL Electroencephalography General Medicine Enzyme replacement therapy Alkaline Phosphatase medicine.disease Vitamin B 6 Endocrinology chemistry Immunoglobulin G Pyridoxal Phosphate Asfotase alfa Pediatrics Perinatology and Child Health Alkaline phosphatase Female Neurology (clinical) business 030217 neurology & neurosurgery medicine.drug |
Zdroj: | Brain and Development. 41:721-725 |
ISSN: | 0387-7604 |
Popis: | Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyridoxine-responsive seizures. Because alkaline phosphatase change pyridoxal 5′ phosphate (PLP) into pyridoxal (PL), which can cross the blood brain barrier and regulates inhibitory neurotransmitter gamma-aminobutyric acid. The female patient was born at a gestational age of 37 weeks 2 days. She presented severe respiratory disorder due to extreme thoracic hypoplasia. With the extremely low serum ALP value (14 IU/L), she was clinically diagnosed as HPP. The diagnosis was confirmed with genetic testing. On day1, the subclinical seizures were detected by aEEG. Together with enzyme replacement therapy by asfotase alfa, pyridoxine hydrochloride was administered, then the seizures were rapidly controlled. While confirming that there was no seizure by aEEG monitoring, pyridoxine hydrochloride was gradually discontinued after 1 month. Before administration of pyridoxine hydrochloride, PL was extremely low (4.7 nM) and PLP was increased (1083 nM). After the withdrawal, PL was increased to 84.9 nM only by enzyme replacement. Monitoring with aEEG enabled early intervention for pyridoxine responsive seizures. Confirming increased serum PL concentration is a prudent step in determining when to reduce or discontinue pyridoxine hydrochloride during enzyme replacement therapy. |
Databáze: | OpenAIRE |
Externí odkaz: |