Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy

Neurology

Volumn 71, Issue 4, 2008, Pages 260-264

  Roe, C R ^a   Yang, B Z ^a   Brunengraber, H ^b   Roe, D S ^a   Wallace, M ^a   Garritson, B K ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARBOXYLIC ACID; CARNITINE PALMITOYLTRANSFERASE; DNA; TRIACYLGLYCEROL; TRIHEPTANOIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BLOOD ANALYSIS; BODY FAT; CALORIC INTAKE; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CHILD; CLINICAL ARTICLE; DIARRHEA; DIET THERAPY; DRUG METABOLISM; ENZYME ASSAY; ENZYME DEFICIENCY; EXERCISE; FEMALE; FIBROBLAST CULTURE; HOSPITALIZATION; HUMAN; IMPEDANCE; LIPID COMPOSITION; MALE; MYALGIA; NUCLEOTIDE SEQUENCE; PHYSICAL ACTIVITY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RHABDOMYOLYSIS; SCHOOL CHILD; SHORT FORM 36; SIDE EFFECT; SPORT; STOMACH CRAMP; THERAPY EFFECT; TREATMENT DURATION; TREATMENT REFUSAL; URINALYSIS; WEIGHT GAIN; CARBOHYDRATE DIET; ELEMENTAL DIET; ENZYMOLOGY; FAT INTAKE; FITNESS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; METHODOLOGY; MIDDLE AGED; MUTATION; REST; TREATMENT OUTCOME;

ADOLESCENT; ADULT; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; DIET THERAPY; DIETARY CARBOHYDRATES; DIETARY FATS; DNA MUTATIONAL ANALYSIS; EXERCISE; FEMALE; FOOD, FORMULATED; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHYSICAL FITNESS; REST; RHABDOMYOLYSIS; TREATMENT OUTCOME; TRIGLYCERIDES;

EID: 50549093513     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000318283.42961.e9     Document Type: Article

References (13)

1. Bonnefont J-P, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyl transferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004;25:495-520.
2. Orngreen MC, Ejstrup R, Vissing J. Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. Neurology 2003;61:559-561.
3. Roe CR, Sweetman L, Roe DS, David F, Brunengraber H. Effective dietary treatment of cardiomyopathy & rhabdo-myolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 2002;110: 259-269.
4. McGarry JD, Woeltje KF, Kuwajima M, et al. Regulation of ketogenesis and the renaissance of carnitine palmitoyl-transferase. Diabetes Metab Rev 1989;5:271-284.
5. Roe CR, Roe DS. Recent developments in the investigations of inherited metabolic disorders using cultured human cells. Mol Gen Metab 1990;68:243-257.
6. Roe DS, Yang B-Z, Vianey-Saban C, Struys E, Sweetman L, Roe CR. Differentiation of long chain fatty acid oxidation disorders using alternative fatty acid precursors and acylcarnitine profiling in fibroblasts. Mol Gen Metab 2006;87:40-47.
7. Yang B-Z, Ding JH, Roe DS, Dewese T, Day DW, Roe CR. A novel mutation identified in carnitine palmitoyl-transferase II deficiency. Mol Gen Metab 1998;63:110-115.
8. Yang BZ, Ding JH, Dewese T, et al. Identification of four novel mutations in patients with carnitine palmitoyltrans-ferase II (CPT II) deficiency. Mol Gen Metab 1998;64: 229-236.
9. Leclerc J, Des Rosiers C, Montgomery JA, et al. Metabolism of R-beta-hydroxypentanoate and of beta-ketopentanoate in conscious dogs. Am J Physiol 1995; 268(pt 1):E446-E452.
10. Bradford MM. A rapid and sensitive method for the quantification of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976;72: 248-254.
11. Ware JE, Kosinski M, Dewey JE. How to Score Version 2 of the SF-36 Health Survey. Lincoln, RI: QualityMetric Incorporated, 2000.
12. Kinman RP, Jobbins KA, Thomas KR, et al. Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. Am J Physiol Endocrinol Metab 2006;291: E860-E866.
13. Wang X, Allen F Jr, Sayre C, et al. Anaplerosis from hep-tanoate - a propionyl-CoA precursor - in mouse brain FASEB J 2007;21:541.12.