Homocystinuria due to MTHFR Deficiency Overview

Save information for later
Sign Up

Learn About Homocystinuria due to MTHFR Deficiency

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?
Elite in Homocystinuria due to MTHFR Deficiency
Martina Huemer
Elite in Homocystinuria due to MTHFR Deficiency
Martina Huemer

Landeskrankenhaus Bregenz

Bregenz, AT 

Martina Huemer practices in Bregenz, Austria. Ms. Huemer is rated as an Elite expert by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. Her top areas of expertise are Homocystinuria due to MTHFR Deficiency, Inborn Amino Acid Metabolism Disorder, Homocystinuria, and Urea Cycle Disorders (UCD).

Advanced in Homocystinuria due to MTHFR Deficiency
Dr. Andre M. Kallab
Hematology Oncology | Hematology | Oncology
Advanced in Homocystinuria due to MTHFR Deficiency
Dr. Andre M. Kallab
Hematology Oncology | Hematology | Oncology

Northeast Georgia Diagnostic Associates And Clinic, LLC

1240 Jesse Fewell Pkwy Se, Suite 500, 
Gainesville, GA 
770-536-9864
Languages Spoken:
English, French
See accepted insurances
Accepting New Patients

Andre Kallab is a Hematologist Oncology specialist and a Hematologist in Gainesville, Georgia. Dr. Kallab is rated as an Advanced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Lung Cancer, Pleuropulmonary Blastoma, Iron Deficiency Anemia, Childhood Iron Deficiency Anemia, and Tissue Biopsy. Dr. Kallab is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Ronald Sockolov
Distinguished in Homocystinuria due to MTHFR Deficiency
Dr. Ronald Sockolov
Family Medicine
Distinguished in Homocystinuria due to MTHFR Deficiency
Dr. Ronald Sockolov
Family Medicine
1 Scripps Dr., Suite 202, 
Sacramento, CA 
916-927-1114
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Ronald Sockolov is a primary care provider, practicing in Family Medicine in Sacramento, California. Dr. Sockolov is rated as a Distinguished provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Homocystinuria due to MTHFR Deficiency, Inborn Amino Acid Metabolism Disorder, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Sockolov is currently accepting new patients.

View All Doctors
What are the latest Homocystinuria due to MTHFR Deficiency Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

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