The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
Patients who are clinically diagnosed with homocystinuria
Male/female patients aged 1 to 65 years
Patients who consented and/or assented
Patients who are willing and able to comply with all study-related procedures.
Medically significant postnatal complications or congenital anomalies that are not associated with homocystinuria
Received any experimental therapy for homocystinuria during the 6 months prior to enrollment or expected to receive any such therapy during duration of the study
Clinical site
Case-only
Prospective
Not listed
Changes in Met cycle metabolites levels - tHcy
Changes in total homocysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.
Changes in Met cycle metabolites levels - total Cys
Changes in total cysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.
Changes in Met cycle metabolites levels - Met
Changes in total methionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.
Changes in Met cycle metabolites levels - Cth
Changes in total cystathionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.
Growth and development: World Health Organization (WHO) growth charts will be used to document height in centimeters (cm) for age 1 to 19 years old. Routine methods will be used to document height for all other age groups.
The results will be summarized using descriptive statistics at each visit.
Growth and development: World Health Organization (WHO) growth charts will be used to document Body Mass Index (BMI) in kilograms per meter square for age 1 to 19 years old. Routine methods will be used to document BMI for all other age groups.
The results will be summarized using descriptive statistics at each visit.
Growth and development: World Health Organization (WHO) growth charts will be used to document weight in kilograms (kg) for age 1 to 19 years old. Routine methods will be used to document weight for all other age groups.
The results will be summarized using descriptive statistics at each visit.
Changes in alanine aminotransferase (ALT)
The results will be summarized using descriptive statistics at each visit.
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