SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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Disease	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Synonym	4-HYDROXYBUTYRIC ACIDURIA; SSADH DEFICIENCY; ACIDEMIA, GAMMA-HYDROXYBUTYRIC
OMIM	271980 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	succinic semialdehyde dehydrogenase Detailed enzyme information on www.expacy.ch
Gene locus	6p22
genetests.org	search search on genetest.org by MIM 271980 search search on genetest.org by HYDROXYBUTYRIC+ACIDURIA Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Reviews - Read the GeneReview for this disorder rare (150 cases) autosomal recessive
Clinical symptoms	Amino acid, spinal fluid Amino acids, plasma Amino acids, urine ataxia behavior, abnormal or bizarre, confusion behavior, autism or autistic-like behavior, hyperactive, restless chorea or athetosis coma hyperreflexia hyporeflexia hypotonia lethargy, drowsiness, malaise or sleep disorder macrocephaly (large calvaria, >2 SD for age) mental retardation microcephaly motor retardation myopathy, ragged red fibers Organic acid, spinal fluid Organic acids, urine seizures speech development, delayed, abnormal
Abnormal Findings in lymphoblasts	Succinic semialdehyde dehydrogenase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in plasma	4-Hydroxybutyric acid \| Significant : 15.00-1000.00 µmol/l Glycine Normal: 146.00-322.00 µmol/l \| Significant : - normal/increased Succinic semialdehyde \| Significant : - increased
Abnormal Findings in spinal fluid	4-Hydroxybutyric acid \| Significant : 245.00-600.00 µmol/l gamma-Aminobutyric acid Normal: 0.00-0.10 µmol/l \| Significant : - increased Glycine Normal: 1.90-10.00 µmol/l \| Significant : - normal/increased
Abnormal Findings in urine	2,4-Dihydroxybutyric acid \| Significant : - increased 3,4-Dihydroxybutyric acid Normal: 30.00-166.00 mmol/mol creatinine \| Significant : 50.00-225.00 mmol/mol creatinine 4-Hydroxybutyric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 130.00-7600.00 mmol/mol creatinine Glycine Normal: -950.00 mmol/mol creatinine \| Significant : - normal/increased Succinic semialdehyde \| Significant : - increased
Treatment	symptomatic therapy vigabatrin
Literature	There are 22 publications available. Click here to open the relevant SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY publications<
Ramedis Case reports with long term followup	There are 10 patient data available. Click here to open the list of SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY patients documented in Ramedis database