Patients with the Creatine Deficiency Syndromes or high-grade suspicion for the Creatine Deficiency Syndromes

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Creatine Deficiency Syndromes diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Creatine Deficiency Syndromes will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Intellectual Disability

Developmental Delay

Movement Disorder

Behavioral Disorder

Intractable Epilepsy

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Ain Shams University, Medical Genetics Center

Chindren's hospital, Faculty of Medicine, Ain Shams University

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Creatine Deficiency Syndromes (BioCDS)

Biomarker for Creatine Deficiency Syndromes. An International, Multicenter, Epidemiological Study.

Next-Generation Sequencing (NGS) of the genes SLC6A8, GAMT, and GATM will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Centogene AG Rostock

Resident of Hattie Larlham long-term care facility receiving VPA

Control AED patients will be recruited based on similar AED regimens excluding VPA, length of time on AED (number of months to >1 year), age, and gender; one control patient per VPA patient.

Control non-AED patients will be recruited based on age and gender; one control patient per VPA patient.

Serum and urine samples from patients receiving VPA.

Hypoalbuminemia

A blood sample and a spot urine sample will be obtained from all eligible patients receiving VPA at the start of the study.

Specimen collection

Hattie Larlham Center for Children with Disabilities

Valproic Acid-associated Hypoalbuminemia in Medically Fragile Patients

Valproic Acid-associated Hypoalbuminemia in Medically Fragile Pediatric and Young Adult Patients in a Long Term Care Facility Part 1: Potential Mechanism for Decreased Albumin Synthesis

ornithine/seizures

Biomarker for Creatine Deficiency Syndromes (BioCDS)

Valproic Acid-associated Hypoalbuminemia in Medically Fragile Patients

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