Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

M. E. Rubio-Gozalbo; P. Vos; P. Ph Forget; S. B. van der Meer; R. J. A. Wanders; H. R. Waterham; J. A. Bakker

Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

M. E. Rubio-Gozalbo, P. Vos, P. Ph Forget, S. B. van der Meer, R. J. A. Wanders, H. R. Waterham, J. A. Bakker

Paediatric Metabolic Diseases (AMC)

Research output: Contribution to journal › Editorial › Academic › peer-review

19 Citations (Scopus)

Abstract

AIM: Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. METHODS: Clinical data of the new case are described and compared with the previous reports. RESULTS: The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients. CONCLUSION: CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high

Original language	English
Pages (from-to)	501-504
Journal	Acta paediatrica (Oslo, Norway
Volume	92
Issue number	4
Publication status	Published - 2003

Cite this

@article{795b7d776ee34154853302cecef65ab1,

title = "Carnitine-acylcarnitine translocase deficiency: case report and review of the literature",

abstract = "AIM: Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. METHODS: Clinical data of the new case are described and compared with the previous reports. RESULTS: The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients. CONCLUSION: CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high",

author = "Rubio-Gozalbo, {M. E.} and P. Vos and Forget, {P. Ph} and {van der Meer}, {S. B.} and Wanders, {R. J. A.} and Waterham, {H. R.} and Bakker, {J. A.}",

year = "2003",

language = "English",

volume = "92",

pages = "501--504",

journal = "Acta paediatrica (Oslo, Norway",

issn = "0803-5253",

publisher = "Wiley-Blackwell",

number = "4",

}

TY - JOUR

T1 - Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

AU - Rubio-Gozalbo, M. E.

AU - Vos, P.

AU - Forget, P. Ph

AU - van der Meer, S. B.

AU - Wanders, R. J. A.

AU - Waterham, H. R.

AU - Bakker, J. A.

PY - 2003

Y1 - 2003

N2 - AIM: Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. METHODS: Clinical data of the new case are described and compared with the previous reports. RESULTS: The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients. CONCLUSION: CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high

AB - AIM: Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. METHODS: Clinical data of the new case are described and compared with the previous reports. RESULTS: The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients. CONCLUSION: CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high

M3 - Editorial

C2 - 12801121

SN - 0803-5253

VL - 92

SP - 501

EP - 504

JO - Acta paediatrica (Oslo, Norway

JF - Acta paediatrica (Oslo, Norway

IS - 4

ER -