Financiado en parte por ARUP Laboratories
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ
Molecular genetics and metabolism · 45 citas
Etiquetas de revisión
Financiado por la industriaDatos neutrales que nuestra revisión registró sobre cómo se hizo este estudio. Describen el método, nunca si nos gusta el resultado.
Cómo se estudió
- Diseño
- Reporte de caso (clasificado por nuestro filtro de IA)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiado por la industria
- Universidad u hospital
- Vanderbilt University
- Organización sin fines de lucro
- Children's Hospital Foundation
- Universidad u hospital
- BC Children's Hospital
- Empresa
- ARUP Laboratories
- Organización sin fines de lucro
- BC Children's Hospital Foundation
Según 5 financiadores declarados.
Publicación
- Publicado
- 2015-10-23 · Mol Genet Metab · vol. 116 · número 4 · págs. 252–259
- Editorial
- Elsevier BV
- Citado
- 70 citas · más que el 84% de estudios similares · 1.9× el promedio de su campo
- Referencias
- 28 trabajos
- Acceso
- Acceso abierto (revista híbrida) · CC-BY-NC-ND
- Áreas de investigación
- Muscle metabolism and nutrition · Metabolism and Genetic Disorders · Amino Acid Enzymes and Metabolism
- Palabras clave
- Medicine, Creatine, Missense mutation, Intellectual disability, Pediatrics, Internal medicine, Myopathy, Arginine, Asymptomatic, Biology, Psychiatry, Genetics, Mutation
- MeSH
- humans, muscular diseases, speech disorders, amino acid metabolism, inborn errors, creatine, amidinotransferases, glycine, treatment outcome, magnetic resonance spectroscopy, sequence analysis, dna, developmental disabilities, gene expression, protein structure, secondary, protein structure, tertiary, genes, recessive, mutation, models, molecular, adolescent, child, child, preschool, female, male, young adult, intellectual disability
17 autores
- Sylvia Stöckler‐Ipsiroglu🇨🇦 · autor de correspondenciaUniversity of British Columbia; BC Children's Hospital; Child and Family Research Institute
- Delia Apatean🇨🇦University of British Columbia
- Roberta Battini🇮🇹Fondazione Stella Maris
- Suzanne D. DeBrosse🇺🇸University Hospitals Cleveland Medical Center
- Kimberley Dessoffy🇺🇸University Hospitals Cleveland Medical Center
- Simon Edvardson🇮🇱Hadassah Medical Center
- Florian Eichler🇺🇸Massachusetts General Hospital
- Katherine T. Johnston🇺🇸Colorado Permanente Medical Group
- David M. Koeller🇺🇸Oregon Health & Science University
- Sonia Nouioua🇩🇿Hôpital Mustapha Pacha
- Mériem Tazir🇩🇿Hôpital Mustapha Pacha
- Ashok K. Verma🇺🇸University of Miami
- Monica D. Dowling🇺🇸University of Miami
- Klaas J. Wierenga🇺🇸OU Health; University of Oklahoma Health Sciences Center
- Andrea M. Wierenga🇺🇸OU Health; University of Oklahoma Health Sciences Center
- Victor Wei Zhang🇺🇸Baylor College of Medicine
- Lee-Jun C. Wong🇺🇸Baylor College of Medicine
Resumen
El texto original del estudio, en el idioma en que se publicó.
Background
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis.
Objective
We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition.
Results
16 patients from 8 families of 8 different ethnic backgrounds were included. 1 patient was asymptomatic when diagnosed at age 3 weeks. 15 patients diagnosed between 16 months and 25 years of life had intellectual disability/developmental delay (IDD). 8 patients also had myopathy/proximal muscle weakness. Common biochemical denominators were low/undetectable guanidinoacetate (GAA) concentrations in urine and plasma, and low/undetectable cerebral creatine levels. 3 families had protein truncation/null mutations. The rest had missense and splice mutations. Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy. The 2 patients treated since age 4 and 16 months had normal cognitive and behavioral development at age 10 and 11 years. Late treated patients had limited improvement of cognitive functions.
Conclusion
AGAT deficiency is a treatable intellectual disability. Early diagnosis may prevent IDD and myopathy. Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing.
Resumen vía Europe PMC. Los derechos de autor siguen siendo de los autores o la editorial (CC BY-NC-ND).
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