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247 results
  1. Isobutyryl-CoA dehydrogenase deficiency 
    https://medlineplus.gov/.../isobutyryl-coa-dehydrogenase-deficiency
    ... cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert ... disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr ...
  2. ACAD8 gene 
    https://medlineplus.gov/genetics/gene/acad8
    ... disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr ... in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr ...
  3. Glutaric acidemia type I 
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i
    ... I patients and the protective effects of l-carnitine treatment. J Cell Biochem. 2018 Dec;119(12): ...
  4. Short/branched chain acyl-CoA dehydrogenase deficiency 
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency
    ... with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called ...
  5. Cyclic vomiting syndrome 
    https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome
    ... vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series. BMC Neurol. 2011 ...
  6. ACADS gene 
    https://medlineplus.gov/genetics/gene/acads
    ... is common but not associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis. ...
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