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Summary
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADH)
4-HYDROXYBUTYRIC ACIDURIA SSADH DEFICIENCY ACIDEMIA, GAMMA-HYDROXYBUTYRIC
271980
OMIM = Online Medalian Inheritance of Men
22
6p22.3
  • symptomatic therapy
  • vigabatrin
rare (150 cases)
autosomal recessive
symptoms
Amino acid, spinal fluid
Amino acids, plasma
Amino acids, urine
ataxia
behavior, abnormal or bizarre, confusion
behavior, anxiety
behavior, autism or autistic-like
behavior, hyperactive, restless
chorea or athetosis
coma
encephalopathy
epilepsy
hyperreflexia
hyporeflexia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
macrocephaly (large calvaria, >2 SD for age)
mental retardation
microcephaly (<2 SD for age)
motor retardation
myopathy, ragged red fibers
Organic acid, spinal fluid
Organic acids, urine
seizures
speech development, delayed, abnormal
laboratory finding
4-Hydroxybutyric acid130.007600.000.002.00mmol/mol creatinineurine
3,4-Dihydroxybutyric acid50.00225.0030.00166.00mmol/mol creatinineurine
4-Hydroxybutyric acid15.001000.00 -Ámol/lplasma
4-Hydroxybutyric acid245.00600.000.000.00-Ámol/lcerebrospinal fluid
Succinic semialdehyde increasedplasma
Succinic semialdehyde increasedurine
gamma-Aminobutyric acid 0.000.10increasedcerebrospinal fluid
Succinic semialdehyde dehydrogenase 100.00decreased activitylymphoblasts
Glycine 1.9010.00normal/increasedcerebrospinal fluid
Glycine 210.00743.00normal/increased urine
Glycine 100.00350.00normal/increasedplasma
MRI, brain, abnormalities -
2,4-Dihydroxybutyric acid0.000.00 increasedurineno data
gamma-Aminobutyric acid0.000.00 increasedurineno data
4,5-Dihydroxyhexanoic acid increasedurine
Literature
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