{"orpha":35705,"name":"Neurometabolic disorder due to serine deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Serine deficiency"],"definition":"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35705/","orphanet_url":"https://www.orpha.net/en/disease/detail/35705","names":{"fr":{"name":"Maladie neurométabolique par déficit en sérine","synonyms":["Déficit en sérine"],"definition":"La maladie neurométabolique par déficit en sérine est un trouble neurométabolique très rare survenant chez l'enfant, potentiellement curable. Elle est caractérisée sur le plan clinique par une microcéphalie, des troubles neuro-développementaux et des convulsions. Trois syndromes de déficit en sérine ont été décrits : le déficit en 3-phosphoglycérate déshydrogénase (3-PGDH), le déficit en 3-phosphosérine phosphatase (3-PSP) et le déficit en phosphosérine aminotransférase."},"de":{"name":"Neurometabolische Störung durch Serin-Mangel","synonyms":["Serin-Mangelsyndrom"],"definition":"Das Serin-Mangel-Syndrom ist eine sehr seltene, im Säuglingsalter einsetzende, potenziell behandelbare neuro-metabolische Erkrankung, die klinisch durch Mikrozephalie, gestörte Entwicklung des Nervensystems und Krampfanfälle gekennzeichnet ist. Drei Serin-Mangel-Syndrome wurden beschrieben: 3-Phosphoglyzerat-Dehydrogenase- (3-PGDH-)Mangel, 3-Phosphoserin-Phosphatase- (3-PSP) Mangel und Phosphoserin-Aminotransferase-Mangel (siehe jeweils dort)."},"es":{"name":"Trastorno neurometabólico por deficiencia de serina","synonyms":["Deficiencia de serina"],"definition":"El síndrome de déficit de serina es un trastorno neurometabólico potencialmente tratable de aparición infantil muy poco frecuente que se caracteriza clínicamente por microcefalia, trastornos del desarrollo neurológico y convulsiones. Se han descrito tres síndromes de déficit de serina: déficit de 3-fosfoglicerato deshidrogenasa (3-PGDH), déficit de fosfoserina aminotransferasa (PSAT) y déficit de 3-fosfoserina fosfatasa (3-PSP) (consulte estos términos)."},"it":{"name":"Malattia neurometabolica da deficit di serina","synonyms":["Deficit di serina"],"definition":"La sindrome da deficit di serina è una malattia neurometabolica molto rara, potenzialmente trattabile, ad esordio infantile, caratterizzata da microcefalia, disturbi dello sviluppo neurologico e convulsioni. Sono state identificate tre sindromi da deficit di serina: il deficit di 3-fosfoglicerato deidrogenasi (3-PGDH), il deficit di 3-fosfoserina fosfatasi (3-PSP) e il deficit di fosfoserina aminotransferasi (si vedano questi termini)."},"nl":{"name":"Neurometabole stoornis door deficiëntie van serine","synonyms":["Deficiëntie van serine"],"definition":"Een zeer zeldzame infantiel optredende, potentieel behandelbare neurometabole aandoening, klinisch gekenmerkt door microcefalie, neurologische ontwikkelingsstoornissen, en insulten. Er werden drie syndromen met deficiëntie van serine beschreven: deficiëntie van 3-fosfoglyceraat-dehydrogenase (3-PGDH), deficiëntie van 3-fosfoserine-fosfatase (3-PSP), en deficiëntie van fosfoserine-aminotransferase."},"pt":{"name":"Doença neurometabólica por deficiência de serina","synonyms":["Deficiência de serina"]},"pl":{"name":"Zaburzenie neurometaboliczne spowodowane niedoborem seryny","synonyms":["Niedobór seryny"]},"cs":{"name":"Neurometabolická porucha způsobená deficitem serinu","synonyms":["Deficit serinu"]},"uk":{"name":"Порушення нейрометаболізму внаслідок дефіциту серину","synonyms":["Дефіцит серину"],"definition":"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)."},"zh":{"name":"丝氨酸缺乏所致神经代谢紊乱","synonyms":["丝氨酸缺乏症"]},"tr":{"name":"Serin eksikliğine bağlı nörometabolik bozukluk","synonyms":["Serin eksikliği"]}},"xrefs":[{"source":"MONDO","code":"0018162","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79194,"name":"Disorder of serine or glycine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":2671,"name":"Neu-Laxova syndrome","type":"Malformation syndrome"},{"orpha":583595,"name":"Serine biosynthesis pathway deficiency, infantile/juvenile form","type":"Disease"},{"orpha":447997,"name":"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}