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Summary
ACYL CoA DEHYDROGENASE 9 DEFICIENCY
ACAD9 DEFICIENCY
611126
OMIM = Online Medalian Inheritance of Men
99901
3q21.3
  • riboflavin
very rare
autosomal recessive
mutation in the ACAD9 gene
symptoms
cardiomyopathy
early death
encephalopathy
exercise intolerance
failure to thrive
hearing defect, deafness
hypoglycemia
liver failure
liver involvement (acute, chronic, hepatitis)
metabolic acidosis
muscle weakness
onset, child
onset, infant
rhabdomyolysis
strokelike episodes
laboratory finding
Lactate increasedblood
Ammonia0.000.00 normal-increasedbloodall
Transaminases increasedserum
Dicarboxylic acids0.000.00 increasedurineno data
Lactate dehydrogenase (LDH) increasedserum
Long chain acyl carnitines increasedliver
Long chain acyl carnitines increasedmuscle
2-Hydroxybutyric acid0.000.00 increasedurineinfancy
Creatine kinase0.000.00 increasedplasmachildhood
Glucose0.000.00 decreasedplasmachildhood
Carnitine0.000.00 decreasedplasmachildhood
Literature
Tadiboyina VTet al.Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuriaAm J Med Genet A1353289-2912005
de Vries BBet al.First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisPrenat Diagn196559-5621999
Korman SHet al.2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine OxidationClin Chem513610-6172005
la Marca Get al.Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometryRapid Commun Mass Spectrom196863-8642005
Schulze Aet al.Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylationClin Chim Acta3350137-1452003
Miyauchi Set al.Isolated ACTH deficiency with Graves disease: a case reportEndocr J511115-1192004
McKinney JTet al.Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneMol Genet Metab822112-1202004
Tulinius Met al.Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletionNeuromuscul Disord156412-4152005
Wang Det al.Tandem Mass Spectrometric Analysis of Dried Blood Spots for Screening of Mucopolysaccharidosis I in NewbornsClin Chem515898-9002005
Van den Hout JMet al.Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milkPediatrics1135e448-4572004
Tanaka Het al.Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeActa Paediatr931142-1432004