Jan 17, 2025 · Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism. The onset of symptoms occurs during infancy, but the average age of diagnosis ranges from 2 …

Jan 15, 2009 · The creatine deficiency disorders (CDDs) are inborn errors of creatine metabolism and transport that comprise: Two creatine biosynthesis defects (both inherited in an autosomal …

Generally, the majority of individuals with creatine transporter defect express the following symptoms with varying levels of severity: developmental delay and regression, intellectual …

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent …

X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a recently identified inborn error of metabolism resulting from a deficiency of creatine transport into the brain. It has been …

SLC6A8 gene variants impair the transporter protein's ability to bring creatine into cells, resulting in a shortage (deficiency) of creatine. The effects of creatine deficiency are most severe in …

CTD is caused by a defect in a gene located on the X chromosome. It can be inherited from a female parent and is more likely to affect male children. The most common CCDS symptoms …

Creatine transporter deficiency is associated with elevated creatine-to-creatinine ratio in urine in males, which is a characteristic biomarker for this disease.

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent …

CTD is a rare X-linked single gene disorder, and one of three cerebral creatine deficiency syndromes. 1 Children with CTD experience significant developmental delays, including …