Homocystinuria due to MTHFR Deficiency Overview

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What is the definition of Homocystinuria due to MTHFR Deficiency?
Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR. At least 40 rare MTHFR gene variants have been found in people with decreased or no working enzyme. Very common gene variants (C677T and A1298C) can cause some decrease in enzyme function. People with Homocystinuria due to MTHFR deficiency tend to have two rare variants or sometimes a rare variant and a common variant. Very rarely people inherit a combination of three or four common variants from their parents (for example two C677T variants and two A1298C variants) and may also develop very high levels of homocystine in their body. Homocystinuria usually does not show symptoms in a newborn baby. Symptoms may include abnormal clotting, developmental delay, seizures, intellectual disability, and microcephaly. Severe homocystinuria can also be caused by gene variants in other genes besides MTHFR.
What are the alternative names for Homocystinuria due to MTHFR Deficiency?
  • Homocystinuria due to MTHFR deficiency
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • Methylenetetrahydro-folate reductase deficiency
Who are the top Homocystinuria due to MTHFR Deficiency Local Doctors?
Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Joshua M. Benge
Family Medicine
Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Joshua M. Benge
Family Medicine

Summit Medical Group Inc

300 Commerical Circle, 
Alexandria, KY 
 (10.2 mi)
859-635-9440
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Joshua Benge is a Family Medicine provider in Alexandria, Kentucky. Dr. Benge and is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Diabetic Nephropathy, Type 2 Diabetes (T2D), Restless Legs Syndrome, and Glucocorticoid-Remediable Aldosteronism. Dr. Benge is currently accepting new patients.

Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Benjamin T. Herms
Hematology Oncology | Hematology | Oncology
Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Benjamin T. Herms
Hematology Oncology | Hematology | Oncology

Oncology Hematology Care Inc

4777 E Galbraith Rd, Suite 1, 
Cincinnati, OH 
 (15.1 mi)
513-751-2273
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Benjamin Herms is a Hematologist Oncology specialist and a Hematologist in Cincinnati, Ohio. Dr. Herms and is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Colorectal Cancer, Familial Colorectal Cancer, Lung Cancer, Non-Hodgkin Lymphoma, and Bone Marrow Aspiration. Dr. Herms is currently accepting new patients.

 
 
 
 
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Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Kay A. Johnson
Internal Medicine
Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Kay A. Johnson
Internal Medicine

University Of Cincinnati Physicians Company LLC

9275 Montgomery Rd, Suite 200, 
Montgomery, OH 
 (15.4 mi)
513-936-4510
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Kay Johnson is an Internal Medicine provider in Montgomery, Ohio. Dr. Johnson and is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. Her top areas of expertise are Myelitis, AIDS Dysmorphic Syndrome, AIDS Dementia Complex, and HIV/AIDS. Dr. Johnson is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center