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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

1 clinical trial for this condition and its sub-types, 0 tagged with Creatine biosynthetic process disease itself.

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Where it sits in the disease tree

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Part of

↑ Amino acid metabolism disease (160) ↑ Disorder of organic acid metabolism (154)

Sub-types of Creatine biosynthetic process disease

AGAT deficiency 1 trial
Guanidinoacetate methyltransferase deficiency 1 trial

Including sub-types (1) Tagged with Creatine biosynthetic process disease (0)

Not yet finished but already full! 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