Homocystinuria due to MTHFR Deficiency Overview

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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?
Dr. Rowena Gonzales-Chambers
Hematology Oncology | Hematology | Oncology
Dr. Rowena Gonzales-Chambers
Hematology Oncology | Hematology | Oncology
1 Undercliff Ter, 
Princeton, WV 
 (39.7 mi)
304-425-1453
Languages Spoken:
English
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Accepting New Patients

Rowena Gonzales-Chambers is a Hematologist Oncology specialist and a Hematologist in Princeton, West Virginia. Dr. Gonzales-Chambers and is rated as an Advanced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. Her top areas of expertise are Gastric Lymphoma, Pleuropulmonary Blastoma, Lung Cancer, Bone Marrow Aspiration, and Gastrostomy. Dr. Gonzales-Chambers is currently accepting new patients.

Dr. Narender R. Jogenpally
Hematology Oncology | Hematology | Oncology
Dr. Narender R. Jogenpally
Hematology Oncology | Hematology | Oncology

Ths Physician Partners Inc

401 Division St, Suite 100, 
South Charleston, WV 
 (42.3 mi)
304-766-4350
Languages Spoken:
English, Telugu
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Accepting New Patients

Narender Jogenpally is a Hematologist Oncology specialist and a Hematologist in South Charleston, West Virginia. Dr. Jogenpally and is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Familial Colorectal Cancer, Inflammatory Breast Cancer, Colorectal Cancer, Angiosarcoma, and Bone Marrow Aspiration. Dr. Jogenpally is currently accepting new patients.

 
 
 
 
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Dr. Toni O. Pacioles
Hematology Oncology | Hematology | Oncology
Dr. Toni O. Pacioles
Hematology Oncology | Hematology | Oncology

Cabell Huntington Hospital Inc

1400 Hal Greer Blvd, 
Huntington, WV 
 (76.5 mi)
304-526-2000
Experience:
21+ years
Languages Spoken:
English, Filipino
See accepted insurances
Accepting New Patients

Toni Pacioles is a Hematologist Oncology specialist and a Hematologist in Huntington, West Virginia. Dr. Pacioles has been practicing medicine for over 21 years and is rated as an Experienced provider by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. His top areas of expertise are Lung Cancer, Familial Colorectal Cancer, Leukocytosis, Colorectal Cancer, and Salpingo-Oophorectomy. Dr. Pacioles is currently accepting new patients.

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