| SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADH) | |
| 4-HYDROXYBUTYRIC ACIDURIA; SSADH DEFICIENCY; ACIDEMIA, GAMMA-HYDROXYBUTYRIC | |
|
271980
OMIM = Online Mendelian Inheritance of Men | |
|
22 | |
| Succinate-semialdehyde dehydrogenase, mitochondrial | |
| 1.2.1.24 | |
| rare (<1:200000) autosomal recessive mutation in the ALDH5A1 gene | |
| Laboratory findings | 4-Hydroxybutyric acid inc (urine) Succinic semialdehyde inc (urine) 4-Aminobutyric acid inc (urine) 2,4-Dihydroxybutyric acid inc (urine) 3,4-Dihydroxybutyric acid inc (urine) 4,5-Dihydroxyhexanoic acid inc (urine) 4-Aminobutyric acid inc (cerebrospinal fluid) 4-Hydroxybutyric acid inc (plasma) 4-Hydroxybutyric acid inc (cerebrospinal fluid) Glycine normal/inc (cerebrospinal fluid) Glycine normal/inc (plasma) Glycine normal/inc (urine) Succinic semialdehyde inc (plasma) Succinic semialdehyde dehydrogenase dec (lymphoblasts) |
| Symptoms | abnormalities (T) of the globus pallidus (MRI) attention deficit disorder myopathy, ragged red fibers Organic acid, spinal fluid Amino acid, spinal fluid ataxia behavior, aggressive behavior, anxiety behavior, hyperactive, restless cerebellar atrophy or hypoplasia chorea or athetosis dystonia feeding difficulties, poor feeding heart failure, cardiac failure hypotonia increased T signal in the brain stem (MRI) increased T signal in the cerebellar dentate nucleus (MRI) MRI, brain, abnormalities [-] myoclonus psychomotor retardation seizures sleep disturbances speech development, delayed, abnormal speech difficulties strabismus Amino acids, plasma Amino acids, urine behavior, abnormal or bizarre, confusion behavior, autism or autistic-like coma developmental delay EEG abnormalities [-] EEG, spike waves [-] encephalopathy epilepsy extrapyramidal signs hyperreflexia hyporeflexia lethargy, drowsiness, apathy macrocephaly (large calvaria, >2 SD for age) mental retardation microcephaly (<2 SD for age) motor retardation onset, childhood onset, infancy onset, neonatal Organic acids, urine status epilepticus strokelike episodes white matter changes, abnormalities |