Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1

For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample of maximal 7,5 ml blood will be taken from the patient via using a dry blood spot filter card. To proof the correct diagnosis a Tyrosinemia type 1, in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of a Tyrosinemia type 1 will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Tyrosinosis

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

Metabolic Disorders

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.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)

BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol

Next-Generation Sequencing (NGS) of the FAH gene 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

Renal Tubule Acidosis

Arterial blood gases

Blood anion gap

serum electrolytes

renal function test

urine PH, specific gravity, aminoaciduria, glycosuria, phospaturia and 24 hr urine calcium

urine analysis

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH)

percentage of cases presented by metabolic acidosis , failure to thrive and polyuria and diagnosed as RTA by arterial blood gases, blood anion gap, serum electrolytes, kidney function tests and urine analysis.

this is by measurement of serum K+ and urine PH. normal or low level of serum K+ with urine PH < 5,5 with proximal RTA, while normal or low level of serum K+ with urine PH > 5,5 with distal RTA. high level of serum K+ with urine PH < 5,5 with hyperkalemic type 4 RTA, while high level of serum K+ with urine PH > 5,5 with voltage defect distal RTA

Sally Ezzat Shafik mikhail

principal investigator

Assiut University

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

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

Defective Mineralization

Biomarker for Hypophosphatasia Disease (BioHypophos)

Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Next-Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing.

rickets/muntah

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital

Biomarker for Hypophosphatasia Disease (BioHypophos)

Kabul Vitamin D Supplementation Trial

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