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Diseases

Genetic and Rare Diseases Information Center (GARD)

Homocystinuria due to MTHFR deficiency


Other Names for this Disease
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Homocystinuria due to MTHFR deficiency?

This severe homocystinuria is caused by rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). In severe MTHFR deficiency, signs and symptoms become apparent in infancy, however the condition can be milder, presenting in later childhood or adulthood. Signs and symptoms may include global developmental delays (46% of cases), low muscle tone (35%), seizures (33%), failure to thrive (17%), blood vessel disease (16%) (blood clots), small head size (15%), ataxia (9%), and peripheral neuropathy (7%). Other possible symptoms include bone disease (scoliosis), and mental health and behavior problems (e.g., attention deficit disorder and hyperactivity). Life expectancy will vary depending on the severity of the deficiency.[1]

For information on signs and symptoms reported in association with common MTHFR gene mutations, such as C677T, please visit our MTHFR Gene Mutation resource page.
Last updated: 4/14/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Homocystinuria due to MTHFR deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Behavioral abnormality -
Gait disturbance -
Homocystinuria -
Hyperhomocystinemia -
Incoordination -
Microcephaly -
Muscle weakness -
Paresthesia -
Seizures -
Stroke -

Last updated: 4/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Munoz T, Patel J, Badilla-Porras R, Kronick J, Mercimek-Mahmutoglu S. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. Brain Dev. 2015 Jan; 37(1):168-70. Accessed 9/10/2015.
  2. Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.
  3. Homocystinuria due to deficiency of N(5,10)-Methylenetetrahydrofoloate reductase activity. Online Mendelian Inheritance in Man. 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236250.
  4. Homocystinuria. Genetics Home Reference (GHR). March, 2016; https://ghr.nlm.nih.gov/condition=homocystinuria.
  5. MTHFR. Genetics Home Reference (GHR). November, 2014; http://ghr.nlm.nih.gov/gene/MTHFR.
  6. Rosenson RS & Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015;
  7. Liew SC & Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015 Jan; 58(1):1-10.
  8. Physician's Guide to The Homocystinurias. The National Organization of Rare Disorders. http://nordphysicianguides.org/wp-content/uploads/2012/02/Homocystinuria_11_29b.pdf. Accessed 9/10/2015.


Other Names for this Disease
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.