Genetic metabolic disease of newborn
Conditions
Interventions
Control group:None
Group of genetic metabolic disease:None
Sponsors
Chinese PLA General Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 14 Years
Inclusion criteria
Inclusion criteria: Inclusion criteria (all items below must be met) About 2000 subjects will be collected for amino acid and acylcarnitine profiling and grouped according to the screening results. (1) 72h=age=14 years old, gender unlimited; (2) Subject informed consent and guardian informed consent to participate in this study; (3) No major neuropsychiatric problems; (4) The normal control group had no abnormal screening results; (5) Abnormal screening results and repeated experimental results, and the final clinically confirmed subjects are the positive group.
Exclusion criteria
Exclusion criteria: Exclusion criteria (Exclusions if one of the following items is met) (1) Subjects who have serious health problems and cannot complete the enrollment; (2) The guardian does not have the reading comprehension or educational level to complete the project (only applicable to adults). (3) Family members explicitly do not agree to participate in the group.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Ala;Arg;Gly;Gln;Cit;Leu;Ile;Met;Phe;Pro;Tyr;Val;carnitine;SA;17a-OHP; | — |
Countries
China
Contacts
Public ContactXiyu He
Chinese PLA General Hospital
Outcome results
None listed