Carnitine palmitoyl transferase II deficiency, neonatal form
Synonyms: CPT2, lethal systemic form | CPT2, neonatal form | CPTII, lethal systemic form | CPTII, neonatal form | Carnitine palmitoyl transferase II deficiency, lethal systemic form | Carnitine palmitoyl transferase deficiency type 2, lethal systemic form | Carnitine palmitoyl transferase deficiency type 2, neonatal form
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term) an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA) is the lethal form of the disease which presents with multisystem failure.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Carnitine palmitoyl transferase II deficiency, neonatal form?
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MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
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Curing single-gene disorders
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