Neonatale Form einer nicht-ketotischen Hyperglycinämie bei blutsverwandten Eltern

Autor:	Rittinger O, Doringer E, Laubichler W, Plöchl E
Rok vydání:	1991
Předmět:	medicine.medical_specialty Pediatrics Respiratory distress Hyperglycinemia business.industry Consanguinity medicine.disease Eeg patterns Cerebrospinal fluid Endocrinology Internal medicine Recien nacido Pediatrics Perinatology and Child Health medicine Autosomal recessive form business
Zdroj:	Klinische Pädiatrie. 203:455-457
ISSN:	1439-3824 0300-8630
Popis:	This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high. The result of cranial computerized tomography demonstrates also in our patient that nonketotic hyperglycinemia joins a growing list of inborn errors of metabolism associated with brain malformations. The consanguinity of parents supports the known autosomal recessive form of inheritance.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ffafb1f955229d6f01b564c99a9ffccb https://doi.org/10.1055/s-2007-1025473 Zobrazit plný text záznamu