Methylene Tetrahydrofolate Reductase Deficiency.

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• 5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder impacting folate metabolism.
• This condition affects homocysteine remethylation, leading to elevated homocysteine levels.

Purpose of the Study:

• To report on five Indian patients diagnosed with MTHFR deficiency from three unrelated families.
• To highlight the critical importance of early recognition and prompt, specific treatment for MTHFR deficiency.

Main Methods:

• Diagnosis is primarily based on identifying elevated homocysteine with normal or low methionine levels.
• Clinical case reporting of affected individuals and their family history.

Main Results:

• The study identified five patients with MTHFR deficiency across three families.
• Elevated homocysteine levels were a key diagnostic indicator in these patients.

Conclusions:

• Early identification and intervention with betaine treatment can significantly improve survival and neurological outcomes in MTHFR deficiency.
• This case series underscores the need for increased awareness and timely diagnosis of MTHFR deficiency in clinical practice.