"The MaP Study": Mapping the Patient Journey in MMA and PA

Inclusion Criteria:

MMA Only • Patient has a confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or
mut-) based on the following criteria:

- Elevated plasma/serum/DBS or urine methylmalonic acid levels

- Presence of normal serum/plasma vitamin B12 and plasma homocysteine levels

- Confirmed by molecular genetic testing. Genetic testing can be performed after the
administration of informed consent if not available, however, molecular genetic
results must be confirmed before the second study visit

PA Only

• Patient has a confirmed diagnosis of isolated PA based on the following criteria:

- Elevated plasma/DBS/urine 2-MC and/or 3-HP

- Elevated plasma/serum/DBS propionylcarnitine (C3)

- Confirmed by genetic testing for mutations of the PCCA or PCCB genes. Genetic testing
can be performed after the administration of informed consent if not available,
however, molecular genetic results must be confirmed before the second study visit

Both MMA and PA

- Patient (and/or legally authorized representative as applicable to local regulations)
is willing and able to comply with study-related assessments and activities

- Patient or legally authorized representative is willing and able to provide informed
consent and/or assent as mandated by local regulation

Exclusion Criteria:

- Estimated GFR <30 mL/min/1.73m2 based on age appropriate equations or patients who
undergo chronic dialysis

- The patient is pregnant or lactating at the time of screening. (Note: Patients who
become pregnant during the study may remain in the study) MMA Only

- Patients diagnosed with isolated MMA cblA, cblB, or cblD enzymatic subtypes or
methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria PA Only

- Patient has a confirmed diagnosis of multiple carboxylase deficiency