Transient nonketotic hyperglycinemia: two case reports and literature review

Aliefendioğlu, Didem; Tana Aslan, A.yşe; Coşkun, Turgay; Dursun, Ali; Çakmak, Fatma Nur; Kesimer, Mehmet

doi:10.1016/S0887-8994(02)00501-5

« Previous Next »Pediatric Neurology
Volume 28, Issue 2 , Pages 151-155, February 2003

Transient nonketotic hyperglycinemia: two case reports and literature review

Didem Aliefendioğlu, MD
- Social Security Children’s Hospital, Neonatology Unit, Ankara, Turkey
- Communications should be addressed to: Dr. Aliefendioğlu; Çiğdem Mahallesi Park Sitesi 46/15; 06530 Balgat Ankara, Turkey.
A.yşe Tana Aslan, MD
- Social Security Children’s Hospital, Neonatology Unit, Ankara, Turkey
Turgay Coşkun, MD
- Department of Pediatrics, Metabolism and Nutrition Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey
Ali Dursun, MD
- Department of Pediatrics, Metabolism and Nutrition Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey
Fatma Nur Çakmak, MD
- Department of Pediatrics, Metabolism and Nutrition Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey
Mehmet Kesimer, PhD
- Department of Pediatrics, Metabolism and Nutrition Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey

Received 13 May 2002; accepted 21 August 2002.

Abstract

Transient nonketotic hyperglycinemia is characterized by clinical and biochemical findings similar to those seen in classic nonketotic hyperglycinemia. Abnormalities in amino acids are partially or completely resolved in a period ranging from days to months. Almost all patients with the classic form of nonketotic hyperglycinemia survive with severe neurologic sequela, whereas most of the patients with the transient form exhibit normal development. Therefore, distinguishing the transient form of nonketotic hyperglycinemia from classic nonketotic hyperglycinemia is important to predict outcome of the patients.

Transient nonketotic hyperglycinemia has been reported in only seven neonates. This article adds two cases to the transient nonketotic hyperglycinemia and reviews the relevant literature. Common clinical features were determined, and presence of miotic pupils was stressed.