3-磷酸甘油酸脫氫酶缺乏相關發育性癲癇性腦病1例_Journal of Epilepsy

Authors：

 孫瑩 ¹ , 段麗芬 ¹ , 王尚昆 ² , 葉磊 ¹ , 余偉 ¹ , 張藝 ¹

1. ;
2. ;

Corresponding?author：

孫瑩, Email: 9089686@qq.com

Keywords：

3-磷酸甘油酸脫氫酶缺乏癥; 絲氨酸; 嬰兒癲癇性痙攣綜合征; 發育性癲癇性腦病; 小頭畸形; PHGDH基因

DOI：

10.7507/2096-0247.202310006

Video：

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Citation： 孫瑩, 段麗芬, 王尚昆, 葉磊, 余偉, 張藝. 3-磷酸甘油酸脫氫酶缺乏相關發育性癲癇性腦病1例. Journal of Epilepsy, 2024, 10(1): 88-92. doi: 10.7507/2096-0247.202310006 Copy

1.	Jaeken J, Detheux M, Van Maldergem L, et al. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child, 1996, 74(6): 542-545.
2.	Grant GA. D-3-Phosphoglycerate Dehydrogenase. Front Mol Biosci, 2018, 5: 110.
3.	Van Der Crabben SN, Verhoeven-Duif NM, Brilstra EH, et al. An update on serine deficiency disorders. Inherit Metab Dis, 2013, 36(4): 613-619.
4.	陶枳言, 陸方. 一例罕見的3-磷酸甘油酸脫氫酶缺乏癥患兒的臨床表現及遺傳學分析. 中華醫學遺傳學雜志, 2021, 38(2): 170-173.
5.	El-Hattab AW, Shaheen R, Hertecant J, et al. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis, 2016, 39(3): 373-381.
6.	Mattos EP, Silva AA, Magalh?es JA, et al. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A, 2015, 167(6): 1323-1329.
7.	Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, et al. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. J Inherit Metab Dis, 2011, 34(1): 181-184.
8.	Méneret A, Wiame E, Marelli C, et al. A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy. Arch Neurol, 2012, 69(7): 908-911.
9.	Tohyama J, Akasaka N, Osaka H, et al. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev, 2008, 30(5): 349-355.
10.	Benke PJ, Hidalgo RJ, Braffman BH, et al. Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges. J Child Neurol, 2017, 32(6): 543-549.
11.	De Koning TJ, Duran M, Dorland L, et al. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol, 1998, 44(2): 261-265.
12.	Klomp LW, de Koning TJ, Malingré HE, et al. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet, 2000, 67(6): 1389-1399.
13.	De Koning TJ, Duran M, Van Maldergem L, et al. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis, 2002, 25(2): 119-125.
14.	De Koning TJ, Jaeken J, Pineda M, et al. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics, 2000, 31(6): 287-292.
15.	De Koning TJ, Klomp LW, van Oppen AC, et al. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet, 2004, 364(9452): 2221-2222.
16.	Co?kun T, Aydin HI, de Koning TJ et al. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. Turk J Pediatr, 2009, 51(6): 587-592.
17.	Pineda M, Vilaseca MA, Artuch R, et al. 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. Dev Med Child Neurol, 2000, 42(9): 629-633.
18.	Ali A, Dhahouri NA, Almesmari FSA, et al. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency. Genes (Basel), 2021, 12(5): 703.
19.	Kraoua I, Wiame E, Kraoua L, et al. 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics, 2013, 44(5): 281-285.
20.	Takeichi T, Okuno Y, Kawamoto A, et al. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. J Lipid Res, 2018, 59(12): 2413-2420.
21.	Shaheen R, Rahbeeni Z, Alhashem A, et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet, 2014, 94(6): 898-904.
22.	Zaki M, Thoenes M, Kawalia A, et al. Recurrent and prolonged infections in a child with a homozygous ifih1 nonsense mutation. Front Genet, 2017, 22(8): 130.
23.	Acuna-Hidalgo R, Schanze D, Kariminejad A, et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet, 2014, 95(3): 285-293.
24.	Brassier A, Valayannopoulos V, Bahi-Buisson N, et al. Two new cases of serine deficiency disorders treated with l-serine. Eur J Paediatr Neurol, 2016, 20(1): 53-60.
25.	Poli A, Vial Y, Haye D, et al. Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. Am J Med Genet A, 2017, 173(7): 1936-1942.

1. Jaeken J, Detheux M, Van Maldergem L, et al. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child, 1996, 74(6): 542-545.
2. Grant GA. D-3-Phosphoglycerate Dehydrogenase. Front Mol Biosci, 2018, 5: 110.
3. Van Der Crabben SN, Verhoeven-Duif NM, Brilstra EH, et al. An update on serine deficiency disorders. Inherit Metab Dis, 2013, 36(4): 613-619.
4. 陶枳言, 陸方. 一例罕見的3-磷酸甘油酸脫氫酶缺乏癥患兒的臨床表現及遺傳學分析. 中華醫學遺傳學雜志, 2021, 38(2): 170-173.
5. El-Hattab AW, Shaheen R, Hertecant J, et al. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis, 2016, 39(3): 373-381.
6. Mattos EP, Silva AA, Magalh?es JA, et al. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A, 2015, 167(6): 1323-1329.
7. Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, et al. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. J Inherit Metab Dis, 2011, 34(1): 181-184.
8. Méneret A, Wiame E, Marelli C, et al. A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy. Arch Neurol, 2012, 69(7): 908-911.
9. Tohyama J, Akasaka N, Osaka H, et al. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev, 2008, 30(5): 349-355.
10. Benke PJ, Hidalgo RJ, Braffman BH, et al. Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges. J Child Neurol, 2017, 32(6): 543-549.
11. De Koning TJ, Duran M, Dorland L, et al. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol, 1998, 44(2): 261-265.
12. Klomp LW, de Koning TJ, Malingré HE, et al. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet, 2000, 67(6): 1389-1399.
13. De Koning TJ, Duran M, Van Maldergem L, et al. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis, 2002, 25(2): 119-125.
14. De Koning TJ, Jaeken J, Pineda M, et al. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics, 2000, 31(6): 287-292.
15. De Koning TJ, Klomp LW, van Oppen AC, et al. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet, 2004, 364(9452): 2221-2222.
16. Co?kun T, Aydin HI, de Koning TJ et al. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. Turk J Pediatr, 2009, 51(6): 587-592.
17. Pineda M, Vilaseca MA, Artuch R, et al. 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. Dev Med Child Neurol, 2000, 42(9): 629-633.
18. Ali A, Dhahouri NA, Almesmari FSA, et al. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency. Genes (Basel), 2021, 12(5): 703.
19. Kraoua I, Wiame E, Kraoua L, et al. 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics, 2013, 44(5): 281-285.
20. Takeichi T, Okuno Y, Kawamoto A, et al. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. J Lipid Res, 2018, 59(12): 2413-2420.
21. Shaheen R, Rahbeeni Z, Alhashem A, et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet, 2014, 94(6): 898-904.
22. Zaki M, Thoenes M, Kawalia A, et al. Recurrent and prolonged infections in a child with a homozygous ifih1 nonsense mutation. Front Genet, 2017, 22(8): 130.
23. Acuna-Hidalgo R, Schanze D, Kariminejad A, et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet, 2014, 95(3): 285-293.
24. Brassier A, Valayannopoulos V, Bahi-Buisson N, et al. Two new cases of serine deficiency disorders treated with l-serine. Eur J Paediatr Neurol, 2016, 20(1): 53-60.
25. Poli A, Vial Y, Haye D, et al. Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. Am J Med Genet A, 2017, 173(7): 1936-1942.

Journal of Epilepsy

3-磷酸甘油酸脫氫酶缺乏相關發育性癲癇性腦病1例

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