Visit Metagene.de!
Summary
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2
MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II, CPT2
255110
OMIM = Online Medalian Inheritance of Men
157
1p32.3
  • avoidance of fasting
  • medium-chain triglycerides (MCT)
rare
autosomal recessive
autosomal dominant
mutation in the carnitine palmitoyltransferase II gene
Three phenotypes of CPT II deficiency:
- lethal neonatal form
- severe infantile hepatocardiomuscular form
- mild myopathic form (most frequent)
Muscle CPT II deficiency is the most frequent type [Lehmann D  et al. 2017]
CPT-1 deficiency can be missed when analysis is performed in plasma, whereas CPT-2 deficiency can be missed when analysis is performed in DBS [de Sain-van der Velden MG 2013]
symptoms
brain, cortical or paraventricular cysts
brown colored urine
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cardiomyopathy, mixed type
coma
dysmorphism
early death
encephalopathy
hepatomegaly (large liver)
hypoglycemia
lethargy, drowsiness, malaise or sleep disorder
muscle cramps
muscle weakness
onset, childhood
onset, infancy
onset, neonatal
pain, muscle
pancreatitis
renal cysts
renal failure, acute/chronic
rhabdomyolysis
seizures
sweating
vomiting
laboratory finding
Creatine kinase1000.0011000.0040.00400.00U/lserum
D-Glucose0.503.002.805.00mmol/lserum
Lactate dehydrogenase (LDH)1000.003000.00110.00210.00U/lserum
Myoglobin100.0025000.00 -Ág/lserum
Myoglobin1000.00250000.00 +Ôé¼g/lurineno data
Transaminases30.002000.0010.0030.00U/lserum
Long chain acyl carnitines increasedliver, muscle,kidney
Carnitine palmitoyltransferase II 10.00 100.00% of normalfibroblasts
Ammonia 25.0080.00normal/increasedblood
Long chain acyl carnitines increased ratioserum
Dicarboxylic acids0.000.00 increasedurineno data
Palmitoylcarnitine (C16) increasedplasma
Oleoylcarnitine (C18:1) increasedplasma
Stearoylcarnitine (C18) increasedplasma
Linoleoylcarnitine (C18:2) increasedplasma
Literature
Jurecka A,et al.Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiencyJ Child Neurol275645-6492012
Martins Eet al.Prolidase deficiency associated to hyper IgEJ Inher Met Dis Suppl230752000
Schlump JU,et al.Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatmentJ Inherit Metab Dis002008
Ratnakumari LQureshi IA, Butterworth RFEvidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiencyNeurosci Lett178163-651994
Stegmann BJCarey JCTORCH Infections. Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus (CMV), and Herpes infectionsCurr Womens Health Rep24253-2582002
Yapicioglu Het al.A newborn infant with generalized glutathione synthetase deficiencyTurk J Pediatr46172-752004
Oppliger Leibundgut EOet al.Ornithine transcarbamylase deficiency: new sites with increased probability of mutationHum Genet952191-1961995
Jakobs Cet al.Stable isotope dilution analysis of N-Acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan diseaseJ Inherit Metab Dis140653-6601991
Tuchman Met al.Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyAm J Med Genet55167-701995
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
Chubanov VGudermann T, Schlingmann KPEssential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasisPflugers Arch002005
Wyckoff MHet al.Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcinJ Clin Endocrinol Metab9021233-12402005
Schlingmann KPGudermann TA critical role of TRPM channel-kinase for human magnesium transportJ Physiol5662301-3082005
Garcia Pet al.Anaemia in 3-hydroxy-3-methylglutaric aciduriaJ Inher Met Dis Suppl 12901062000
Roxburgh STAtypical retinitis pigmentosa with hypophosphatasiaTrans Ophthalmol Soc U K1035513-5161983
Kollberg G,et al.Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0N Engl J Med357151507-15142007
Park SMChatterjee VKGenetics of congenital hypothyroidismJ Med Genet425379-3892005
Hoang MPet al.Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome).Am J Dermatopathol26153-582004
Zschocke Jet al.Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolismPediatr Res480852-8552000
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Zschocke Jet al.2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency - a novel neurodegenerative disorderJ Inher Met Dis Suppl 12301092000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Lindenthal Bet al.Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hunermann-Happle syndromeKlin Padiatr216267-692004
Tuchman MPlante RJMutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendumHum Mutat54293-2951995
Inui KOkada S, Dickson GGene therapy in Duchenne muscular dystrophyBrain Dev185357-3611996
Magge SNet al.Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptorJ Clin Endocrinol Metab8994450-44562004
Uchino Tet al.Molecular basis of phenotypic variation in patients with argininemiaHum Genet963255-2601995
Litmanovitz Iet al.Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsionsJ Inherit Metab Dis25135-402002