Carnitine deficiency disorders in children

Annals of the New York Academy of Sciences

Volumn 1033, Issue , 2004, Pages 42-51

  Stanley, Charles A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Acyl coA; Carnitine; Children; Deficiency; Disorder; Fatty acids; Metabolism; Pivalate; Supplementation

Indexed keywords

ACYL COENZYME A; ACYLCARNITINE; ANTIBIOTIC AGENT; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARRIER PROTEIN; LONG CHAIN FATTY ACID; PIVALIC ACID; PROTEIN OCTN2; UNCLASSIFIED DRUG;

CARDIOMYOPATHY; CARNITINE DEFICIENCY; CHILD; CHRONIC DRUG ADMINISTRATION; CONFERENCE PAPER; DRUG BLOOD LEVEL; DRUG EFFICACY; DRUG METABOLISM; DRUG TISSUE LEVEL; ENERGY YIELD; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; HYPERALIMENTATION; HYPOGLYCEMIA; ISCHEMIA; MASS SPECTROMETRY; PROTEIN DEGRADATION; PROTEIN DEPLETION; TURNOVER TIME; URINARY EXCRETION;

ANIMALIA;

EID: 10644250580     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1320.004     Document Type: Conference Paper

References (10)

1. STANLEY, C.A. 1995. Carnitine disorders. Adv. Pediatr. 42: 209-242.
2. WANG, Y., F. TARONI, B. GARAVAGLIA & N. LONGO. 2000. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Hum. Mutat. 16: 401-407.
3. WANG, Y., J. YE, V. GANAPATHY & N. LONGO. 1999. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc. Natl. Acad. Sci. USA 96: 2356-2360.
4. TREEM, W.R., C.A. STANLEY, D.N. FINEGOLD et al. 1988. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N. Engl. J. Med. 319: 1331-1336.
5. STANLEY, C.A., S. DELEEUW, P.M. COATES et al. 1991. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann. Neurol. 30: 709-716.
6. CEDERBAUM, S.D., S. KOO-MCCOY, I. TEIN et al. 2002. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol. Genet. Metab. 77: 195-201.
7. HOLME, E., C.E. JACOBSON, I. NORDIN et al. 1989. Carnitine deficiency induced by pivampicillin and pivmecillinam therapy. Lancet 2: 469-472.
8. ROE, C.R., D.S. MILLINGTON, D.A. MALTBY et al. 1984. L-Carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia J. Clin. Invest. 73: 1785-1788.
9. KELLEY, R.I. 1994. The role of carnitine supplementation in valproic acid therapy. Pediatrics 93: 891-892.
10. STANLEY, C.A., G.T. BERRY, M.J. BENNETT et al. 1993. Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr. Res. 34: 89-97.