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Carnitine palmitoyl transferase deficiency

MONDO:0700284

1 clinical trial for this condition and its sub-types.

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Sub-types

Carnitine palmitoyl transferase 1A deficiency (1) Carnitine palmitoyltransferase II deficiency (1) Carnitine palmitoyl transferase II deficiency, myopathic form (0) Carnitine palmitoyl transferase II deficiency, neonatal form (0) Carnitine palmitoyl transferase II deficiency, severe infantile form (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disorder of fatty acid and ketone body metabolism (3) Disease of genetic or genomic mechanism (2) Inborn disorder of energy metabolism (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
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  • Newborn screening study aims to catch rare diseases at birth

    Diagnosis Ongoing

    This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

    Sponsor: RTI International • Aim: Diagnosis

    Last updated Jul 03, 2026 00:00 UTC

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