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Summary
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
CARNITINE-ACYLCARNITINE TRANSLOCASE CACT
212138
OMIM = Online Medalian Inheritance of Men
159
3p21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • medium-chain triglycerides (MCT)
  • no specific treatment
rare
autosomal recessive
mutation in the SLC25A20
failure to transport long chain acylcarnitines to the mitochondria
symptoms
cardiac arrest
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, mixed type
coma
early death
encephalopathy
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypothermia
hypotonia
lactic acidosis
liver failure
muscle weakness
onset, neonatal
Organic acids, urine
seizures
vomiting
laboratory finding
Carnitine 40.0060.00decreasedplasma
L-Lactic acid 0.901.80increasedblood
Dicarboxylic acids0.000.000.000.00increasedurineinfancy
Adipic acid0.000.000.0020.00increasedurinenewborn
Acylcarnitine0.000.00 increasedurineno data
Ammonia150.00400.0025.0080.00-Ámol/lblood
D-Glucose 3.305.50decreasedblood
Carnitine-acylcarnitine translocase 0.741.02decreased activityfibroblasts
Sebacic acid57.00266.000.002.00mmol/mol creatinineurine
Suberic acid76.00168.003.0014.00mmol/mol creatinineurinenewborn
Carnitine decreasedserum
Palmitoylcarnitine (C16) increasedplasma
Oleoylcarnitine (C18:1) increasedplasma
Linoleoylcarnitine (C18:2) increasedplasma
Stearoylcarnitine (C18) increasedplasma
Literature
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
Vietor KPet al.Ethanolaminosis: a newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early deathEur J Pediatr126061-751977
Krone Net al.Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenitaHum Mutat255502-5032005
Balsamo Aet al.A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadismAm J Med Genet A1353292-2962005
Fiumara Aet al.Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four sicilian patientsBr J Ophthalmol7811845-8461994
Stibler Het al.Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic diseaseJ Neurol Neurosurg Psychiatry575552-5561994
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
ODonohoe NVHolland PDFamilial congenital adrenal hypoplasiaArch Dis Child430717-7231968
Whittock NVet al.Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)J Invest Dermatol1214939-9422003
Kolodny EHFluharty ALMetachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202693-27391995
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
Huang WYet al.Leigh syndrome presenting with dystonia: report of one caseActa Paediatr Sin365378-3811995
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Verrijn Stuart AAde Vroede MA, Giltay JCFrom gene to disease congenital adrenal hypoplasia and the DAX-1 geneNed Tijdschr Geneeskd149211156-11582005
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Balsamo Aet al.A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadismAm J Med Genet A1353292-2962005
Verrijn Stuart AAde Vroede MA, Giltay JCFrom gene to disease congenital adrenal hypoplasia and the DAX-1 geneNed Tijdschr Geneeskd149211156-11582005