Carnitine Inborn Errors of Metabolism.

摘要: Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal reabsorption along with dietary intake and production maintain homeostasis. The precursors biosynthesis lysine methionine. biosynthetic pathway involves four enzymes: 6-N-trimethyllysine dioxygenase (TMLD), 3-hydroxy-6-N-trimethyllysine aldolase (HTMLA), 4-N-trimethylaminobutyraldehyde dehydrogenase (TMABADH), γ-butyrobetaine (BBD). OCTN2 (organic cation/carnitine transporter novel type 2) transports into the cells. One major functions is shuttling long-chain fatty acids across mitochondrial membrane cytosol matrix β-oxidation. This transport achieved by carnitine–acylcarnitine cycle, which consists three palmitoyltransferase I (CPT I), carnitine-acylcarnitine translocase (CACT), II II). inborn errors metabolism could result defects biosynthesis, transport, or cycle. presentation these disorders variable but common findings include hypoketotic hypoglycemia, cardio(myopathy), liver disease. this review, homeostasis discussed. Then we present details different metabolism, including clinical presentation, diagnosis, treatment options. At end, discuss some causes secondary deficiency.