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

Pre-Eclampsia

L-arginine supplementation in a medical food

Vitamin C and E supplementation in a medical food

Univesity of Pennsylvania

Instituto Nacional de Perinatologia Isidro Espinosa de los Reyes

L-Arginine and Antioxidant Vitamins During Pregnancy to Reduce Preeclampsia

Supplementation With L-Arginine and Antioxidant Vitamins During Pregnancy in a Medical Food to Reduce the Risk of Preeclampsia in a High Risk Population

l arginine/ataque epiléptico

Biomarker for Creatine Deficiency Syndromes (BioCDS)

L-Arginine and Antioxidant Vitamins During Pregnancy to Reduce Preeclampsia

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