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carnitine deficiency
Pathology:
- disorder of fatty acid oxidation caused by defective carnitine transport
Genetics:
- autosomal recessive
- defect in organic cation/carnitine transporter 2 (SLC22A5)
Clinical manifestations:
- systemic primary carnitine deficiency presents either:
a) early in life with hypoketotic hypoglycemia & acute metabolic decompensation
b) later in life with skeletal myopathy or cardiomyopathy
Laboratory:
- serum glucose may show hypoglycemia
- serum ketones negative
- acylcarnitines in serum/plasma low or absent
General
inborn error of metabolism
Database Correlations
OMIM correlations
MORBIDMAP 603377
References
OMIM :accession 249270