Management Guidelines
No clinical practice guidelines for homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase (MTHFR) activity have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with homocystinuria due to deficiency of N(5,10)-MTHFR activity, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Biochemical
| • Measure plasma homocysteine concentration plasma amino acids to assess methionine concentration.
Measure CSF 5-MTHF CSF methionine concentration.
|
Respiratory
| • Assessment for respiratory compromise
Apnea monitoring
Sleep study
| • Regular eval is important to identify any breathing difficulties that may arise due to the disorder.
Apnea monitoring is essential for newborns or infants, as homocystinuria can be assoc w/apnea other respiratory issues.
Growth/
Feeding
| • Assessment of growth caloric intake
Feeding team eval as needed
| • To incl eval of aspiration risk nutritional status
Consider eval for gastrostomy tube placement in persons w/dysphagia /or aspiration risk.
Neurologic
| Neurologic eval |...
Source: GeneReviews — "Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity"
