Adult GAMT deficiency: A literature review and report of two siblings
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understandi...
Main Authors: | , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2021-06-01
|
Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426921000550 |