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Creatine biosynthetic process disease

MONDO:0045018

A disease that has its basis in the disruption of creatine biosynthetic process.

Also known as: creatine synthesis disease, disorder of creatine biosynthetic process, disorder of creatine synthesis

11 clinical trials for this condition and its sub-types.

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Sub-types

AGAT deficiency (1) Guanidinoacetate methyltransferase deficiency (1)

Broader categories

Disease (618) Metabolic disease (215) Human disease (14) Amino acid metabolism disease (0) Disease by developmental or physiological process (0) Disorder of organic acid metabolism (0)

Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC