hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

hrp0086p2-p570 | Perinatal Endocrinology P2 | ESPE2016

Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism

Vu Dung , Dang Anh Duong , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Ngoc Khanh , Nguyen Phu Dat , Tran Minh Dien , Flanagan Sarah E , Ellard Sian

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

hrp0082p3-d3-728 | Diabetes (2) | ESPE2014

The Result of Sulphonylureas Treatment in Patients with Neonatal Diabetes Mellitus due to kcnj11/abcc8 Gene Mutations in Vietnam

Bich Ngoc Can Thi , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Phu Dat Nguyen , Ellard Sian , Craig Maria , Thi Hoan Nguyen

Background: Neonatal diabetes may be defined as hyperglycemia diagnosed within the first 6 months of life which is permanent neonatal diabetes or transient neonatal diabetes. They can result from some gene mutations such as KCNJ11, ABCC8, INS, GCK, … In there, the most common cause of neonatal diabetes mellitus is associated with activating mutations in the KCNJ11 gene, which encodes Kir6.2-a subunit of the ATP-sensitive potassium channel (KATP) of the β cell and AB...