Homocystinuria due to MTHFR Deficiency
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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?
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 practicing medicine in Bregenz, Austria. Ms. Huemer is rated as an Elite expert by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Homocystinuria due to MTHFR Deficiency, Inborn Amino Acid Metabolism Disorder, Homocystinuria, and Urea Cycle Disorders (UCD).

Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Anil V. Tumkur
Internal Medicine
Experienced in Homocystinuria due to MTHFR Deficiency
Dr. Anil V. Tumkur
Internal Medicine

Tennessee Cancer Specialists

1301 Sunset Dr, Ste 3, 
Johnson City, TN 
423-588-7130
Languages Spoken:
English
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Offers Telehealth

. Dr. Tumkur is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Familial Colorectal Cancer, Colorectal Cancer, Acute Mountain Sickness, and Anemia. Dr. Tumkur is board certified in American Board Of Internal Medicine.

 
 
 
 
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Distinguished in Homocystinuria due to MTHFR Deficiency
Dr. Michael Greenberg
Internal Medicine
Distinguished in Homocystinuria due to MTHFR Deficiency
Dr. Michael Greenberg
Internal Medicine

Holy Cross Medical Group

4917 Coconut Creek Pkwy, 
Coconut Creek, FL 
954-971-8040
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Michael Greenberg is a primary care provider, practicing in Internal Medicine in Coconut Creek, Florida. Dr. Greenberg is rated as a Distinguished provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. He is also highly rated in 52 other conditions, according to our data. His clinical expertise encompasses Arthritis, Glossitis, Pernicious Anemia, and Homocystinuria due to MTHFR Deficiency. Dr. Greenberg is currently accepting new patients.

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