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SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADH)

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
6p22.3
E72.8
rare (<1:200000)
autosomal recessive
mutation in the ALDH5A1 gene
Laboratory findings4-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