Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

Mohanlal, Smilu; Bindu, Parayil Sankaran; Sureshbabu, Sachin; Kumar, Suresh

doi:10.1016/j.ebr.2020.100357

Cited by 10 publications

(14 citation statements)

References 8 publications

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“…PLP trial was the second therapeutic option after PN in neonatal refectory seizure, used in 36 patients. Responses to PLP varied; 61% (n = 22) showed a marked immediate clinical response with seizures cessation including one patient required combined PN/PLP and riboflavin therapy to achieve seizure cessation 20 and another patient never experienced seizure as PLP was initiated prophylactically, 21 25% (n = 9) of the responsive patients developed an immediate adverse event either like apneia‐hypotonia prior to seizure cessation (n = 4) or developed status epileptics upon switching to PLP (n = 5) and 14% (n = 5) responded only after several days with gradual seizure control. We noted that all of the responsive patients became PLP‐dependent and dose adjustment was needed to manage sick days.…”

Section: Resultsmentioning

confidence: 99%

“…One patient reported with homozygous for a c.283C > T; (p. R95C) mutation at PNPO gene who had a normal brain MRI initially at 1 month of age but his follow‐up imaging at 3 years showed severe diffuse atrophy 11 . The most common abnormality revealed on brain imaging was diffuse atrophy, which was observed in eight patients (14.5%), 8,9,16,20 followed by ischemic changes and encephalomalacia in five patients (5.5%), 1,13,16,17 and delayed myelination and atrophy in another three patients 18,34,35 . An additional two patients (2.5%) had diffuse or focal edema 1,10 .…”

Section: Resultsmentioning

confidence: 99%

“…had normal brain imaging. [7][8][9][11][12][13]16,21,[26][27][28][29][30][31][32][33] The most common abnormality revealed on brain imaging was diffuse atrophy, which was observed in eight patients (14.5%), 8,9,16,20 followed by ischemic changes and encephalomalacia in five patients (5.5%), 1,13,16,17 and delayed myelination and atrophy in another three patients. 18,34,35 An additional two patients (2.5%) had diffuse or focal edema.…”

Section: Brain Imagingmentioning

confidence: 99%

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confidence: 99%

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Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

et al. 2020

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Pyridoxamine-5 0-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5 0-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre-maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of PLP which regulates several enzymes in the body. We present the phenotypic and genotypic spectrum of (PNPO) deficiency based on a literature review (2002-2020) of reports (n = 33) of patients with confirmed PNPO deficiency (n = 87). All patients who received PLP (n = 36) showed a clinical response, with a complete dramatic PLP response with seizure cessation observed in 61% of patients. In spite of effective seizure control with PLP, approximately 56% of patients affected with PLP-dependent epilepsy suffer developmental delay/intellectual disability. There is no diagnostic biomarker, and molecular testing required for diagnosis. However, we noted that cerebrospinal fluid (CSF) PLP was low in 81%, CSF glycine was high in 80% and urinary vanillactic acid was high in 91% of the cases. We observed only a weak correlation

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Brain Imagingmentioning

confidence: 99%

mentioning

confidence: 99%

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Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

et al. 2020

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“…Since, PNPO is flavin mono nucleotide( FMN) dependent enzyme, addition of riboflavin may also be of benefit. [10] .…”

Section: Discussionmentioning

confidence: 99%

Complexities of pyridoxine response in PNPO deficiency

Farmania

Gupta

Ankur

et al. 2021

Epilepsy & Behavior Reports

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Highlights Treatment of PNPO deficiency related neonatal status epilepticus is challenging. Pyridoxine responsiveness is seen in huge number of cases of PNPO deficiency. Various phenotypic variants in terms of response to pyridoxine are known in PNPO disorder making the treatment complex. Immediate complete cessation of seizures or normalization of EEG on pyridoxine or pyridoxal 5 phosphate therapy is not necessary for the diagnosis, and treatment should be continued till the genetic tests are available.

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Pyridoxal-phosphate

2020

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Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

Cited by 10 publications

References 8 publications

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

Complexities of pyridoxine response in PNPO deficiency

Pyridoxal-phosphate

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