Creatine metabolism abnormality
An anomaly of the concentration or homeostasis of creatine. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.
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Causes of Creatine metabolism abnormality
Some of the causes of the condition may include: Causes of Abnormality Of Creatine Metabolism:
- 46,XY Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
- Cerebral Creatine Deficiency Syndrome 3
- Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
- Creatine Kinase, Brain Type, Ectopic Expression Of ...
Causes List for Creatine metabolism abnormality
Possible causes of Creatine metabolism abnormality (or similar symptoms) may include:4
- Arginine:glycine amidinotransferase deficiency (Abnormality of creatine metabolism)
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Abnormality of creatine metabolism, Creatine metabolism abnormality)
- Lynch syndrome (Abnormality of creatine metabolism, Creatine metabolism abnormality)
- L-arginine glycine amidinotransferase deficiency (Abnormality of ...
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- [from HPO]
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ CN167839/
- Source: Human Phenotype Ontology
- Source: Algorithmically Generated List
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