Disorders


 

Succinic Semialdehyde Dehydrogenase Deficiency


Synonym(s): 4-Hydroxybutyric Aciduria, Gamma-Hydroxybutyric Aciduria, SSADH Deficiency

 

GeneReviewOMIM

GeneLocusProtein
ALDH5A16p22Succinate-semialdehyde dehydrogenase

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
diagenos - Osnabrueck, Germany  
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Analyte
  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Analyte
  
Universita degli Studi di Roma Tor Vergata, Population Genetics - Rome, Italy  
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte
  
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Analyte
• Enzyme assay
  
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA• Analyte
  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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