MTHFR deficiency

Introduction: MTHFR deficiency

Description of MTHFR deficiency

MTHFR deficiency (medical condition): A inborn error of metabolism where an inherited deficiency of methylene...more »

See also:

Methylene tetrahydrofolate reductase deficiency:
  »Introduction: Methylene tetrahydrofolate reductase deficiency
  »Symptoms of Methylene tetrahydrofolate reductase deficiency

MTHFR deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for MTHFR deficiency:

• Deficiency
• Deficiency disease

MTHFR deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

MTHFR deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MTHFR deficiency, or a subtype of MTHFR deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list MTHFR deficiency as a "rare disease".

Source - Orphanet

MTHFR deficiency as a Disease

MTHFR deficiency: Another name for Methylene tetrahydrofolate reductase deficiency (or close medical condition association).
  »Introduction: Methylene tetrahydrofolate reductase deficiency
  »Symptoms of Methylene tetrahydrofolate reductase deficiency

MTHFR deficiency: Related Diseases

MTHFR deficiency: MTHFR deficiency is listed as a type of (or associated with) the following medical conditions in our database:

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions

Symptoms of MTHFR deficiency (Methylene tetrahydrofolate reductase deficiency)

Some of the symptoms of MTHFR deficiency incude:

• Developmental delay
• Motor abnormality
• Gait abnormality
• Mental retardation
• Seizures

See full list of 10 symptoms of MTHFR deficiency (Methylene tetrahydrofolate reductase deficiency)

Terms associated with MTHFR deficiency:

Terms Similar to MTHFR deficiency:

• Methylenetetrahydrofolate reductase deficiency
• 5 10-methylenetetrahydrofolate reductase deficiency

Source: Diseases Database

• Methylenetetrahydrofolate reductase deficiency
• Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity

Source - NIH

External links related to: MTHFR deficiency

• OMIM - HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Source: Diseases Database

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