Claudia Soler-Alfonso, MD, FACMG
Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine
Languages: English
Departments:
Get to know Claudia Soler-Alfonso, MD, FACMG
Personal Statement
I serve as a clinician and researcher in the field of Medical Genetics. My primary role in the healthcare team involves utilizing cutting-edge genetic testing to accurately diagnose an assortment of genetic disorders. My primary focus is on providing precise insights to direct clinical interventions for patients with a complex medical history.
Patients who visit my clinic present with a diverse range of symptoms which may include developmental delays, autism, growth anomalies, hypoglycemia and various other metabolic issues. I spearhead comprehensive investigations into the potential genetic origins of these conditions, guaranteeing the use of the most advanced, customized testing for each patient.
In my role as a geneticist, I emphasize the importance of dedicating ample time to each child and their family to ensure that they receive the most relevant information, empathetic counseling and expert guidance throughout the diagnostic process and subsequent treatment.
Clinical Interests
My clinical interests encompass an array of genetic disorders such as inborn errors of metabolism, chromosomal abnormalities and single gene disorders, to name a few.
Research Interests
Glycogen storage disorders, organic acidemias
Education
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Organizations
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* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.
Publications
Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. eCollection 2022 Jul.PMID: 35822097 Free PMC article.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25.PMID: 36796138 Review. L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.
Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F.Mol Genet Metab Rep. 2019 Jan 25;19:100453. doi: 10.1016/j.ymgmr.2019.100453. eCollection 2019 Jun.PMID: 30740308 Free PMC article.
Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Bonfante-Mejia E, Northrup H. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. Pediatr Neurol. 2015 Mar;52(3):361-5. doi: 10.1016/j.pediatrneurol.2014.10.023. Epub 2014 Nov 7.PMID: 25591832