Bioscience, Biotechnology, and Biochemistry, 2022 ABSTRACT The YggS/PLPBP protein (also called COG0325 or PLPHP) is a conserved pyridoxal 5ʹ-phosphate (PLP)-binding protein present in all 3 domains of life. Recent studies have demonstrated that disruption or mutation of this protein has multifaceted effects in various organisms, including vitamin B6-dependent epilepsy in humans.
Tomokazu Ito
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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant. [PDF]
J Pediatr Genet, 2019 AbstractRecently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who was never treated with pyridoxine until the age of 16 years.
Johannsen J +7 more
europepmc +4 more sources
Molecular Genetics and MetabolismTo describe the phenotype, genotype, neuroimaging features, and outcome of PLPBP-related vitamin B6-dependent epilepsies. We present a systematic review, along with a multicenter case series of patients with PLPBP deficiency.We collected individual data on clinical, radiological, genetic, and outcomes for a multicenter case series (n = 8) and all ...
Ali Al-Otaibi +2 more
exaly +3 more sources
Late-Onset Vitamin B6-Dependent Epilepsy Caused by Compound Heterozygous Pathogenic PLPBP Variants
European Journal of Medical GeneticsEvidence has shown that pathogenic variants of the PLPBP gene can cause vitamin B6-dependent epilepsy, a condition characterized by neonatal-onset seizures that respond to vitamin B6 supplementation. In this paper, we report a case of vitamin B6-dependent epilepsy in a Japanese girl caused by compound heterozygous variants in PLPBP, NM_007198.4: c.275A
Koichi Nakanishi +2 more
exaly +3 more sources
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]
J Inherit Metab DisABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Stolwijk NN +6 more
europepmc +2 more sources
Embracing the future: Neonatal screening for epileptic syndromes. [PDF]
EpilepsiaEpilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Nabbout R, Kuchenbuch M.
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Genomic variants association with selective hypersensitivity reactions to amoxicillin and clavulanic acid. [PDF]
AllergyAllergy, Volume 80, Issue 2, Page 578-581, February 2025.
Nuñez R +7 more
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Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling. [PDF]
Int J Mol Sci, 2023 The mitochondrial matrix peptidase CLPP is crucial during cell stress. Its loss causes Perrault syndrome type 3 (PRLTS3) with infertility, neurodegeneration, and a growth deficit.
Key J +5 more
europepmc +2 more sources
Epilepsia Open, 2018 SummaryObjectiveVitamin B6–dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1, PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6–dependent epilepsies.
Hiroshi Shiraku +14 more
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Biochemical and Proteomic Studies of Human Pyridoxal 5′-Phosphate-Binding Protein (PLPBP)
, 2019 The pyridoxal 5′-phosphate-binding protein (PLPBP) is an evolutionarily conserved protein linked to pyridoxal 5′-phosphate-binding. Although mutations in PLPBP were shown to cause vitamin B6-dependent epilepsy, its cellular role and function remain ...
Stephan A. Sieber +3 more
core +3 more sources