Two new cases of serine deficiency disorders treated with l -serine

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 (

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Veröffentlicht in:	European journal of paediatric neurology 2016-01, Vol.20 (1), p.53-60
Hauptverfasser:	Brassier, A, Valayannopoulos, V, Bahi-Buisson, N, Wiame, Elsa, Hubert, L, Boddaert, N, Kaminska, A, Habarou, F, Desguerre, I, Van Schaftingen, E, Ottolenghi, C, de Lonlay, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Metabolism, Inborn Errors - drug therapy Amino Acid Metabolism, Inborn Errors - genetics Amino Acids - cerebrospinal fluid Carbohydrate Metabolism, Inborn Errors - drug therapy Carbohydrate Metabolism, Inborn Errors - genetics Child, Preschool Cognition Disorders - drug therapy Cognition Disorders - etiology Congenital microcephaly Drug Resistant Epilepsy - etiology Electroencephalography Female Head - growth & development Humans Infant Infant, Newborn Intractable epilepsy Male Microcephaly - drug therapy Microcephaly - etiology Microcephaly - genetics Muscle Spasticity - etiology Neurology Oral l-serine treatment Pediatrics Phosphoglycerate Dehydrogenase - deficiency Phosphoglycerate Dehydrogenase - genetics Pregnancy Psychomotor Disorders - drug therapy Psychomotor Disorders - genetics Seizures - drug therapy Seizures - etiology Seizures - genetics Serine - blood Serine - deficiency Serine - therapeutic use Transaminases - deficiency Transaminases - genetics Treatment Outcome
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Beschreibung
Zusammenfassung:	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 (
ISSN:	1090-3798 1532-2130
DOI:	10.1016/j.ejpn.2015.10.007