Neonatal hyperammonemia secondary to organic acidemia
Conditions
Interventions
Control group:None
Carglumic acid group:None
Sponsors
Children's Hospital of Chongqing Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 1 Years
Inclusion criteria
Inclusion criteria: 1. 0-28 days after birth; 2. Blood ammonia >100µmol/L before treatment, accompanied by hyperammonemia-related clinical manifestations, such as drowsiness, irritability, underreaction, convulsion, coma, changes in muscle tension, abnormal body temperature, abnormal breathing (shortness of breath, apnea, respiratory rhythm change, etc.), refusal to feed or feeding difficulties, vomiting, arrhythmia, etc. 3. Informed consent was obtained from parents;
Exclusion criteria
Exclusion criteria: 1.Patients with pre-existing diagnosis of known ammonia metabolism disorders (other than methylmalonic acidemia, propionic acidemia, isovaleric acidemia, or N-acetylglutamate synthase deficiency) prior to hyperammonemia onset, such as arginase deficiency. 2.Incomplete documentation of therapeutic parameters including: Pharmacological dosage regimens Treatment duration; 3.Parent/guardian-initiated withdrawal from the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Rate of blood ammonia reduction(4-6h); | — |
Secondary
| Measure | Time frame |
|---|---|
| Improvement of clinical symptoms; | — |
Countries
China
Contacts
Public ContactShi Yuan; Dong Wenhui
Children's Hospital of Chongqing Medical University
Outcome results
None listed