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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
mutation in the ALDH5A1 gene
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
Yamaguchi KHirabayashi K, Honma KMethylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) typeClin Neuropathol144216-2221995
Hwu WLet al.Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiencyJ Inherit Metab Dis3058162007
Hebestreit Het al.Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findingsEur J Pediatr15501035-10391996
Roomets Eet al.Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiencyNeurology6781516-15172006
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Kanzaki Aet al.Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomasAnticancer Res2321913-19152003
Soda Het al.Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemiaJ Inherit Metab Dis183295-2981995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Jaeken Jet al.Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase IIArch Dis Child710123-1271994
Hoffmann GFet al.Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiencyNeuropediatrics270115-1231996
Stromme Pet al.Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings -- a new recessive syndrome?Clin Genet4811-51995
Balducci Ret al.Complex glycerol kinase defiency: an unusual cause of salt-wasting in malesClin Endocrinol Oxf424437-4391995
Cano Aet al.Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemiaPediatr Cardiol291163-1652008
Hwu WLet al.Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiencyJ Inherit Metab Dis3058162007
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Amat di San Filippo Cet al.Cardiomyopathy and carnitine deficiencyMol Genet Metab942162-1662008
Pierre Get al.Prospective treatment in carnitine-acylcarnitine translocase deficiencyJ Inherit Metab Dis3058152007
Okajima Ket al.Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduriaCleft Palate Craniofac J390246-2482002
Tan Jet al.Molecular cloning and localization to chromosome 14 of the human UDP-N-acetyl-glucosamine: alpha-6-D-mannoside +ƒ-1, 2-N-acetylglucosaminyltransferase II gene (MGAT2)Glycoconjugate J100232-2331993
Umehara Fet al.Neurologic manifestations of Kanzaki diseaseNeurology6291604-16062004
Vijay Set al.Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infantsJ Inherit Metab Dis295627-6302006
Panneerselvam KFreeze HHMannose corrects altered N-glycolisation in carbohydrate-deficient glycoprotein syndrome fibroblastsJ Clin Invest9761478-14871996
Heymans HSet al.Rhizomelic chondrodysplasia punctata: another peroxysomal disorderN Engl J Med3130187-1881985
Lescaut Wet al.Duchenne or Becker muscular dystrophy in girlsRev Med Interne256464-4672004
Akdemir Ret al.Complete atrioventricular block in Becker muscular dystrophyN Z Med J11708952004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Gaull GETallan HHMethionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemiaScience186059-601974
Perez-Duenas B,et al.Novel features in the evolution of adenylosuccinate lyase deficiencyEur J Paediatr Neurol164343-3482012
Matsumura RCarnosinemiaRyoikibetsu Shokogun Shirizu2903972000
Rouse Bet al.Maternal phenylketonuria collaborative study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelaeAm J Med Genet69089-951997
Hamajima NWada YSerum carnosinase deficiency and homocarnosinosisRyoikibetsu Shokogun Shirizu181252-2541998