Vitamin B12 deficiency E53.8
Conditions
Interventions
Group 1: Non-interventional, uncontrolled observational study (open) with anonymous data collection.
Study procedure: With the help of the Erhebungseinheit für seltene pädiatrische Erkrankungen in De
Sponsors
Universitätsklinikum Heidelberg
Eligibility
Sex/Gender
All
Age
No minimum to 12 Months
Inclusion criteria
Inclusion criteria: During the study period, newly diagnosed patients with clinically manifest infantile vitamin B12 deficiency.
Exclusion criteria
Exclusion criteria: - Patients already diagnosed before the start of the study. - Unconfirmed suspicion of a manifest infantile vitamin B12 deficiency. - Age > 12 months of life.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Incidence of clinically symptomatic, laboratory-confirmed vitamin B12 deficiency in the first year of life (vitamin B12 in serum/plasma: <160 pmol/l or <215 pg/ml and/or holo-transcobalamin in serum/plasma <35 pmol/l ) in Germany depending on the patient's region of residence/birth, comparing regions with and without newborn screening pilot projects for the identification of neonatal vitamin B12 deficiency. 2. Incidence of neonatal vitamin B12 deficiency identified in newborn screening. 3. Description of the age profile and clinical spectrum of symptomatic vitamin B12 deficiency at initial manifestation. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Description of the anamnestically recorded causes of the vitamin B12 deficiency (resorption disorder of the child, nutrition of the child until diagnosis, maternal nutritional habits, resorption disorders or medication intake). 2. Description of the diagnostic work-up (laboratory chemistry, neurological examination, cerebral imaging, EEG examination). | — |
Countries
Germany
Contacts
Public ContactUlrike; Mütze;
Universität Heidelberg, Medizinische Fakultät Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin;Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED), Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI), Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Outcome results
None listed