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Term:
succinic semialdehyde dehydrogenase deficiency (DOID:0060175)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
3MC syndrome 3  
5-Oxoprolinase Deficiency  
Abuse Dwarfism Syndrome 
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
cerebral creatine deficiency syndrome +   
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cohen syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dimethylglycine Dehydrogenase Deficiency  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
Glutathione Synthetase Deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hartnup disease  
Heyn-Sproul-Jackson Syndrome  
histidine metabolism disease +   
histidinemia  
homocarnosinosis  
homocystinuria +   
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hypermethioninemia due to adenosine kinase deficiency  
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Ketoadipicaciduria 
Lamb-Shaffer Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
MALEYLACETOACETATE ISOMERASE DEFICIENCY  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial DNA depletion syndrome 5  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
organic acidemia +   
ornithine translocase deficiency  
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Partington Anderson Syndrome 
pentosuria  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
phenylketonuria +   
Pierpont syndrome  
prolidase deficiency  
propionic acidemia +   
Pseudo-TORCH Syndrome +   
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Richards-Rundle Syndrome 
Roifman-Chitayat Syndrome 
Sarcosinemia  
serine deficiency +   
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SNIJDERS BLOK-FISHER SYNDROME  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)
systemic primary carnitine deficiency disease  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
Turnpenny-Fry Syndrome  
tyrosinemia +   
Tyrosinosis 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  

Synonyms
Exact Synonyms: 4-hydroxybutyric aciduria ;   4-hydroxybutyricaciduria ;   GABA METABOLIC DEFECT ;   SSADH ;   SSADH deficiency ;   SSADHD ;   SUCCINATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY ;   gamma-hydroxybutyric acidemia ;   gamma-hydroxybutyric aciduria
Primary IDs: MESH:C535803
Alternate IDs: OMIM:271980 ;   RDO:0001112
Definition Sources: http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.