Tags

Type your tag names separated by a space and hit enter

Two new cases of serine deficiency disorders treated with l-serine.
Eur J Paediatr Neurol. 2016 Jan; 20(1):53-60.EJ

Abstract

OBJECTIVE AND PATIENTS

We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. Patient 1 had also intractable seizures. A treatment with oral l-serine was started at age 4.5 years and 3 months respectively.

RESULTS

Serine levels were low in plasma and CSF relative to the reference population, for which we confirm recently redefined intervals based on a larger number of samples. l-Serine treatment led in patient 1 to a significant reduction of seizures after one week of treatment and decrease of electroencephalographic abnormalities within one year. In patient 2 treatment with l-serine led to an improvement of spasticity. However for both patients, l-serine failed to improve substantially head circumference (HC) and neurocognitive development. In a couple related to patient's 2 family, dosage of serine was performed on fetal cord blood when the fetus presented severe microcephaly, showing reduced serine levels at 30 weeks of pregnancy.

CONCLUSIONS

l-Serine treatment in patients with 2 different serine synthesis defects, led to a significant reduction of seizures and an improvement of spasticity, but failed to improve substantially neurocognitive impairment. Therefore, CSF and plasma serine levels should be measured in all cases of severe microcephaly at birth to screen for serine deficiency, as prompt treatment with l-serine may significantly impact the outcome of the disease. Reduced serine levels in fetal cord blood may also be diagnostic as early as 30 weeks of pregnancy.

Authors+Show Affiliations

Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.Service de Neuropédiatrie et explorations fonctionnelles, Hôpital Necker-Enfants Malades, Université Paris Descartes, Institut Imagine, Paris, France.de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.Service de Radiologie pédiatrique, Hôpital Necker-Enfants Malades, Université Paris Descartes, Institut Imagine, Paris, France.Service de Neuropédiatrie et explorations fonctionnelles, Hôpital Necker-Enfants Malades, Université Paris Descartes, Institut Imagine, Paris, France.Service de Biochimie spécialisée, Hôpital Necker-Enfants Malades, Université Paris Descartes, Inserm U747, Paris, France.Service de Neuropédiatrie et explorations fonctionnelles, Hôpital Necker-Enfants Malades, Université Paris Descartes, Institut Imagine, Paris, France.de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.Service de Biochimie spécialisée, Hôpital Necker-Enfants Malades, Université Paris Descartes, Inserm U747, Paris, France.Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France. Electronic address: pascale.delonlay@nck.aphp.fr.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26610677

Citation

Brassier, A, et al. "Two New Cases of Serine Deficiency Disorders Treated With L-serine." European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, vol. 20, no. 1, 2016, pp. 53-60.
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.
Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., & de Lonlay, P. (2016). Two new cases of serine deficiency disorders treated with l-serine. European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, 20(1), 53-60. https://doi.org/10.1016/j.ejpn.2015.10.007
Brassier A, et al. Two New Cases of Serine Deficiency Disorders Treated With L-serine. Eur J Paediatr Neurol. 2016;20(1):53-60. PubMed PMID: 26610677.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two new cases of serine deficiency disorders treated with l-serine. AU - Brassier,A, AU - Valayannopoulos,V, AU - Bahi-Buisson,N, AU - Wiame,Elsa, AU - Hubert,L, AU - Boddaert,N, AU - Kaminska,A, AU - Habarou,F, AU - Desguerre,I, AU - Van Schaftingen,E, AU - Ottolenghi,C, AU - de Lonlay,P, Y1 - 2015/11/05/ PY - 2015/07/24/received PY - 2015/09/20/revised PY - 2015/10/20/accepted PY - 2015/11/28/entrez PY - 2015/11/28/pubmed PY - 2016/7/30/medline KW - Congenital microcephaly KW - Intractable epilepsy KW - Oral l-serine treatment KW - Serine deficiency SP - 53 EP - 60 JF - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society JO - Eur J Paediatr Neurol VL - 20 IS - 1 N2 - OBJECTIVE AND PATIENTS: We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. Patient 1 had also intractable seizures. A treatment with oral l-serine was started at age 4.5 years and 3 months respectively. RESULTS: Serine levels were low in plasma and CSF relative to the reference population, for which we confirm recently redefined intervals based on a larger number of samples. l-Serine treatment led in patient 1 to a significant reduction of seizures after one week of treatment and decrease of electroencephalographic abnormalities within one year. In patient 2 treatment with l-serine led to an improvement of spasticity. However for both patients, l-serine failed to improve substantially head circumference (HC) and neurocognitive development. In a couple related to patient's 2 family, dosage of serine was performed on fetal cord blood when the fetus presented severe microcephaly, showing reduced serine levels at 30 weeks of pregnancy. CONCLUSIONS: l-Serine treatment in patients with 2 different serine synthesis defects, led to a significant reduction of seizures and an improvement of spasticity, but failed to improve substantially neurocognitive impairment. Therefore, CSF and plasma serine levels should be measured in all cases of severe microcephaly at birth to screen for serine deficiency, as prompt treatment with l-serine may significantly impact the outcome of the disease. Reduced serine levels in fetal cord blood may also be diagnostic as early as 30 weeks of pregnancy. SN - 1532-2130 UR - https://www.unboundmedicine.com/medline/citation/26610677/Two_new_cases_of_serine_deficiency_disorders_treated_with_l_serine_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1090-3798(15)00181-6 DB - PRIME DP - Unbound Medicine ER -