[Neonatal form of a nonketotic hyperglycinemia in consanguinous parents].
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.
Plöchl
E
E
Kinderspital Landeskrankenanstalten Salzburg.
Rittinger
O
O
Doringer
E
E
Laubichler
W
W
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D004569:Electroencephalography; D005260:Female; D005808:Genes, Recessive; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014057:Tomography, X-Ray Computed
D005998:Glycine
Neonatale Form einer nicht-ketotischen Hyperglycinämie bei blutsverwandten Eltern.