Isovaleric acidemia abnormal metabolism of organic acid
Conditions
Interventions
After taking informed consent, study items such as medical history, physical findings, imaging tests, and blood tests are performed. Glycine dosage should be started at 100~250 mg/kg/day, and the dosa
D046650
Isovaleric acidemia
Sponsors
Chinen Yasutsugu
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients diagnosed with isovaleric acidemia between March 2006 and March 2023 are able to attend the University of the Ryukyu Hospital.
Exclusion criteria
Exclusion criteria: Patients or their representatives request refusal to participate this studay.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of acute metabolic crisis | — |
Secondary
| Measure | Time frame |
|---|---|
| Degree of blood acidosis, intelligence testing, blood biochemicals: ammonia, glycine, free carnitine. | — |
Contacts
Public ContactYasutsugu Chinen
Graduate School of Medicine, University of the Ryukyus
Outcome results
None listed