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Summary
VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)
VLCAD DEFICIENCY
201475
OMIM = Online Medalian Inheritance of Men
26793
17p13.1
  • avoidance of fasting
  • bezafibrate
  • L-carnitine
  • medium-chain triglycerides (MCT)
rare
autosomal recessive
3 phenotypes:
- severe form (early death, hypertrophic cardiomyopathy, early onset)
- milder form with late onset (hypoketotic hypoglycemia, no cardiac involvement)
- later occurrences in adolescents and adults (rhabdomyolysis, myoglobinuria )
Newborn screening for VLCADD suffers from a high false positive rate due to
false positive results in many heterozygotes and to elevated acylcarnitines
including C14:1 in some catabolic neonates even in the absence of ACADVL mutations [Simon EO2017]
symptoms
cardiac arrest
cardiomyopathy
cardiomyopathy, hypertrophic
cardiomyopathy, mixed type
coma
early death
encephalopathy
hepatomegaly (large liver)
hypoglycemia
hypotonia
liver involvement or dysfunction
metabolic acidosis
muscle weakness
myopathy
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
pain, muscle
pericardial effusion
respiratory insufficiency
rhabdomyolysis
steatorrhea
laboratory finding
Glucose 3.305.50normal-decreasedbloodinfant
Long chain acyl carnitines 0.007.00increasedplasma
Dicarboxylic acids normal-increasedurine
Carnitine 15.0040.00normal/decreasedDBS, plasmainfant
Creatine kinase 40.00400.00increasedserum
pH 7.357.45decreasedblood
Tetradecenoic acid increasedplasma
Adipic acid 1.007.00increasedurine
Suberic acid 0.002.00normal/increasedurine
3-Hydroxyadipic acid 4.0044.00increasedurine
Very-long-chain acyl-CoA dehydrogenase decreased activityfibroblasts
Myoglobin0.000.00 increasedurineno data
Tetradecenoylcarnitine (C14:1) 0.020.27normal-increasedDBS, plasmanewborn
Tetradecadienoylcarnitine (C14:2) 0.000.12increasedblood
Tetradecanoylcarnitine (C14) increasedblood
Palmitoylcarnitine (C16) increasedblood
Oleoylcarnitine (C18:1) increasedblood
Ketone bodies decreased during hypoglycemiaurine
Tetradecenoylcarnitine (C14:1)/ Dodecenoylcarnitine (C12:1) > 5 (ratio)plasma
Hexadecenoylcarnitine (C16:1) increasedplasma
Linoleoylcarnitine (C18:2) increasedplasma
Sebacic acid normal-increasedurine
Literature
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Schuchman EHDesnick RJNiemann-Pick disease types A and B: acid sphingomyelinase deficienciesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202601-26241995
La Du BNAlkaptonuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1391371-13861995
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Filigenzi MSet al.Diagnostic determination of melamine and related compounds in kidney tissue by liquid chromatography/tandem mass spectrometryJ Agric Food Chem56177593-75992008
Gamble JLet al.Congenital alkalosis with diarrheaJ Pediatr260509-5181945
Stanley CAet al.Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membraneN Engl J Med327019-231992
Yapicioglu Het al.A newborn infant with generalized glutathione synthetase deficiencyTurk J Pediatr46172-752004
Al-Jishi Eet al.Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiencyClin Genet556444-4491999
Blau Net al.MANAGEMENT OF PHENYLKETONURIA IN EUROPE: A REVIEW FROM 8 COUNTRIESJ Inherit Metab Dis Suppl310832008
Schulze A et al.Creatine deficieny syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolismJ Pediatr1310626-6311997
Ristoff ELarsson APatients with genetic defects in the gamma-glutamyl cycleChem Biol Interact1110113-1211998
Opladen T,et al.Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.J Child Neurol29136-422014
Engelmann Get al.Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndromeJ Inherit Metab Dis314540-5462008
Hanley WB.Finding the fertile woman with phenylketonuriaEur J Obstet Gynecol Reprod Biol1372131-1352008
Peinemann FDanner DJMaple syrup urine disease 1954-1993J Inherit Metab Dis1703-151994
Sui L,et al.Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.Structure22121855-18612014
Arseculeratne Get al.Trimethylaminuria (fish-odor syndrome): a case reportArch Dermatol143181-842007
Charnas LRNussbaum RLThe oculocerebrorenal syndrome of Lowe (Lowe syndrome)The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31233705-37161995
Aichbichler BWet al.Proton-pump inhibition of gastric chloride secretion in congenital chloridorrheaN Engl J Med3360106-1091997
Werner DTrimethylaminuria (fish-odour syndrome)--hints for a new therapeutic option with desmopressinAktuelle Urol385406-4072007
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Gahl WASchneider JA, Aula PPLysosomal transport disorders: cystinosis and sialic acid storage diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303763-37971995
van Spronsen FJBurgard PThe truth of treating patients with phenylketonuria after childhood: The need for a new guidelineJ Inherit Metab Dis002008
Sarkissian CNG+ímez A, Scriver CRWhat we know that could influence future treatment of phenylketonuriaJ Inherit Metab Dis002008
Hanley WB.Finding the fertile woman with phenylketonuriaEur J Obstet Gynecol Reprod Biol1372131-1352008
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Roe CRCoates PMMitochondrial fatty acid oxidation disordersThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101501-15331995
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Neufeld EFM+€nzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Frerman FEGoodman SINuclear encoded defects of the mitochondrial respiratory chain, including Glutaric Acidemia Type IIThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1471611-16291995
Shinka Tet al.Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiencyJ Chromatogr B Analyt Technol Biomed Life Sci776157-632002
Anastasoaie Vet al.Stability of blood phenylalanine levels and IQ in children with phenylketonuriaMol Genet Metab002008
Opladen T,et al.Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.J Child Neurol29136-422014
S+©vik Oet al.Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeJ Inherit Metab Dis002008
Booth IWet al.Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrheaLancet I001066-10681985
Gupta RKet al.Brain metabolite changes on in vivo proton magnetic resonance spectroscopy in children with congenital hypothyreoidismJ Pediatr1260389-3921995
Schuchman EHDesnick RJNiemann-Pick disease types A and B: acid sphingomyelinase deficienciesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202601-26241995