DOI: 10.1177/088307380201700414. Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level

Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level

10.1177/088307380201700414

Crossref journal-article

SAGE Publications

Journal of Child Neurology (179)

Abstract

Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects. (J Child Neurol 2002;17:304-306).

Bibliography

Tsao, C.-Y., & Mendell, J. R. (2002). Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level. Journal of Child Neurology, 17(4), 304â306.

Authors 2

Chang-Yong Tsao (first)
Jerry R. Mendell (additional)

References 30 Referenced 7

10.1126/science.182.4115.929
10.1172/JCI115090
10.1056/NEJM199112263252607
10.1016/S0022-3476(09)90019-1
10.1016/S0022-3476(95)70073-0
Hirano M., DiMauro S.: Metabolic myopathies, in Younger DS (ed): Motor Disorders. Philadelphia , Lippincott Williams & Wilkins, 1999, 123-137.
DiMauro S., Tonin P., Servidei S.: Metabolic myopathies, in Rowland LP , DiMauro S (eds): Myopathies . Amsterdam, Elsevier Science, 1992 , 479-526.
10.1056/NEJM199909303411404
10.1006/mcpr.1996.0053
10.1016/0960-8966(93)90123-2
10.1016/0887-8994(90)90084-E
10.1002/mus.880120308
10.1212/WNL.51.4.1228
10.1177/088307380001500216
Zierz S.: Carnitine palmitoyltransferase deficiency, in Engel AG, Franzini-Armstrong C (eds): Myology, 2nd ed. New York, McGraw-Hill, 1994,1577-1586.
10.1016/S0022-3476(05)83187-7
10.1177/088307380001500704
DiMauro S.: Mitochondrial encephalomyopathies, in Rosenberg RN, Prusiner SB, DiMauro S, et al (eds): The Molecular and Genetic Basis of Neurological Disease. Stoneham, MA, Butterworth-Heinemann, 1993, 665-694.
10.1002/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W
10.1073/pnas.91.13.6206
10.1006/bbrc.1997.7167
10.1002/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R
10.1016/0092-8674(90)90059-N
10.1212/WNL.52.2.377
10.1002/ajmg.1397
10.1177/088307380001500607
10.1002/1097-4598(200008)23:8<1157::AID-MUS1>3.0.CO;2-O
10.1016/S0022-510X(98)00263-9
10.1097/00005072-199405000-00004
10.1177/088307389400900122

Dates

Type	When
Created	17 years, 5 months ago (March 31, 2008, 6:40 p.m.)
Deposited	6 months ago (March 3, 2025, 3:38 a.m.)
Indexed	6 months ago (March 4, 2025, 12:29 a.m.)
Issued	23 years, 5 months ago (April 1, 2002)
Published	23 years, 5 months ago (April 1, 2002)
Published Online	23 years, 5 months ago (April 1, 2002)
Published Print	23 years, 5 months ago (April 1, 2002)

Funders 0

None

BibTeX

@article{Tsao_2002, title={Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level}, volume={17}, ISSN={1708-8283}, url={http://dx.doi.org/10.1177/088307380201700414}, DOI={10.1177/088307380201700414}, number={4}, journal={Journal of Child Neurology}, publisher={SAGE Publications}, author={Tsao, Chang-Yong and Mendell, Jerry R.}, year={2002}, month=apr, pages={304–306} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        3,
        4
      ]
    ],
    "date-time": "2025-03-04T05:29:30Z",
    "timestamp": 1741066170615,
    "version": "3.38.0"
  },
  "reference-count": 30,
  "publisher": "SAGE Publications",
  "issue": "4",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2002,
            4,
            1
          ]
        ],
        "date-time": "2002-04-01T00:00:00Z",
        "timestamp": 1017619200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://journals.sagepub.com/page/policies/text-and-data-mining-license"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2002,
        4
      ]
    ]
  },
  "abstract": "<jats:p> Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects. (J Child Neurol 2002;17:304-306). </jats:p>",
  "DOI": "10.1177/088307380201700414",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2008,
        3,
        31
      ]
    ],
    "date-time": "2008-03-31T22:40:10Z",
    "timestamp": 1207003210000
  },
  "page": "304-306",
  "source": "Crossref",
  "is-referenced-by-count": 7,
  "title": "Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level",
  "prefix": "10.1177",
  "volume": "17",
  "author": [
    {
      "given": "Chang-Yong",
      "family": "Tsao",
      "sequence": "first",
      "affiliation": [
        {
          "name": "Department of Pediatrics and Neurology, College of Medicine and Public Health, The Ohio State University, Columbus, Ohio"
        }
      ]
    },
    {
      "given": "Jerry R.",
      "family": "Mendell",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Neurology, College of Medicine and Public Health, The Ohio State University, Columbus, Ohio"
        }
      ]
    }
  ],
  "member": "179",
  "published-online": {
    "date-parts": [
      [
        2002,
        4,
        1
      ]
    ]
  },
  "reference": [
    {
      "key": "atypb1",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126/science.182.4115.929"
    },
    {
      "key": "atypb2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1172/JCI115090"
    },
    {
      "key": "atypb3",
      "doi-asserted-by": "publisher",
      "DOI": "10.1056/NEJM199112263252607"
    },
    {
      "key": "atypb4",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0022-3476(09)90019-1"
    },
    {
      "key": "atypb5",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0022-3476(95)70073-0"
    },
    {
      "key": "atypb6",
      "unstructured": "Hirano M., DiMauro S.: Metabolic myopathies, in Younger DS (ed): Motor Disorders. Philadelphia , Lippincott Williams & Wilkins, 1999, 123-137."
    },
    {
      "key": "atypb7",
      "unstructured": "DiMauro S., Tonin P., Servidei S.: Metabolic myopathies, in Rowland LP , DiMauro S (eds): Myopathies . Amsterdam, Elsevier Science, 1992 , 479-526."
    },
    {
      "key": "atypb8",
      "doi-asserted-by": "publisher",
      "DOI": "10.1056/NEJM199909303411404"
    },
    {
      "key": "atypb9",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/mcpr.1996.0053"
    },
    {
      "key": "atypb10",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0960-8966(93)90123-2"
    },
    {
      "key": "atypb11",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0887-8994(90)90084-E"
    },
    {
      "key": "atypb12",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/mus.880120308"
    },
    {
      "key": "atypb13",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212/WNL.51.4.1228"
    },
    {
      "key": "atypb14",
      "doi-asserted-by": "publisher",
      "DOI": "10.1177/088307380001500216"
    },
    {
      "key": "atypb15",
      "unstructured": "Zierz S.: Carnitine palmitoyltransferase deficiency, in Engel AG, Franzini-Armstrong C (eds): Myology, 2nd ed. New York, McGraw-Hill, 1994,1577-1586."
    },
    {
      "key": "atypb16",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0022-3476(05)83187-7"
    },
    {
      "key": "atypb17",
      "doi-asserted-by": "publisher",
      "DOI": "10.1177/088307380001500704"
    },
    {
      "key": "atypb18",
      "unstructured": "DiMauro S.: Mitochondrial encephalomyopathies, in Rosenberg RN, Prusiner SB, DiMauro S, et al (eds): The Molecular and Genetic Basis of Neurological Disease. Stoneham, MA, Butterworth-Heinemann, 1993, 665-694."
    },
    {
      "key": "atypb19",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W"
    },
    {
      "key": "atypb20",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.91.13.6206"
    },
    {
      "key": "atypb21",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/bbrc.1997.7167"
    },
    {
      "key": "atypb22",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R"
    },
    {
      "key": "atypb23",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(90)90059-N"
    },
    {
      "key": "atypb24",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212/WNL.52.2.377"
    },
    {
      "key": "atypb25",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/ajmg.1397"
    },
    {
      "key": "atypb26",
      "doi-asserted-by": "publisher",
      "DOI": "10.1177/088307380001500607"
    },
    {
      "key": "atypb27",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/1097-4598(200008)23:8<1157::AID-MUS1>3.0.CO;2-O"
    },
    {
      "key": "atypb28",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0022-510X(98)00263-9"
    },
    {
      "key": "atypb29",
      "doi-asserted-by": "publisher",
      "DOI": "10.1097/00005072-199405000-00004"
    },
    {
      "key": "atypb30",
      "doi-asserted-by": "publisher",
      "DOI": "10.1177/088307389400900122"
    }
  ],
  "container-title": "Journal of Child Neurology",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://journals.sagepub.com/doi/pdf/10.1177/088307380201700414",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://journals.sagepub.com/doi/pdf/10.1177/088307380201700414",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2025,
        3,
        3
      ]
    ],
    "date-time": "2025-03-03T08:38:43Z",
    "timestamp": 1740991123000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://journals.sagepub.com/doi/10.1177/088307380201700414"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2002,
        4
      ]
    ]
  },
  "references-count": 30,
  "journal-issue": {
    "issue": "4",
    "published-print": {
      "date-parts": [
        [
          2002,
          4
        ]
      ]
    }
  },
  "alternative-id": [
    "10.1177/088307380201700414"
  ],
  "URL": "http://dx.doi.org/10.1177/088307380201700414",
  "relation": {},
  "ISSN": [
    "0883-0738",
    "1708-8283"
  ],
  "subject": [],
  "container-title-short": "J Child Neurol",
  "published": {
    "date-parts": [
      [
        2002,
        4
      ]
    ]
  }
}