ArticleAmerican journal of human genetics2001
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 251 citations in OpenAlex.
- Genetic Screening of Patients With Inherited Fanconi Syndrome.Kidney international reports · 2026Article
- GATM alleviates sepsis-induced acute kidney injury via PDK4-mediated glycolytic reprogramming in renal tubular epithelial cells.Cellular and molecular life sciences : CMLS · 2026Article
- Article
- Toxicity of Pentachlorophenol Exposure on Male and FemaleACS omega · 2025Article
- Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.Frontiers in neuroscience · 2025Article
- Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity.International journal of molecular sciences · 2024Article
- Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.ACS chemical biology · 2024Article
- Article
- Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341LJIMD reports · 2024Article
- Rescue of myocytes and locomotion throughMolecular therapy. Methods & clinical development · 2024Article
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.Molecular genetics and metabolism · 2024Article
- Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency.Brain sciences · 2024Article
- Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical andMolecular genetics and metabolism reports · 2024Article
- Article
- The potential role of creatine supplementation in neurodegenerative diseases.Physical activity and nutrition · 2023Article
- Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.Translational pediatrics · 2023Article
- Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.Turkish archives of pediatrics · 2023Article
- MR Neuroimaging in Pediatric Inborn Errors of Metabolism.Diagnostics (Basel, Switzerland) · 2022Review
- Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.Journal of inherited metabolic disease · 2022Article
- Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine.Methods in molecular biology (Clifton, N.J.) · 2022Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism. A homozygous G-A transition at nucleotide position 9297, converting a tryptophan codon (TGG) to a stop codon (TAG) at residue 149 (T149X), resulted in undetectable cDNA, as investigated by reverse-transcription PCR, as well as in undetectable AGAT activity, as investigated radiochemically in cultivated skin fibroblasts and in virus-transformed lymphoblasts of the patients. The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities. Recognition and treatment with oral creatine supplements may prevent neurological sequelae in affected patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.