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Turk J Pediatr



Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.


Uzun Ö Ü, Çavdarlı B, Karalök S
Turk J Pediatr. 2021; 63(6):1097-1102.
PMID: 35023662.


The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. Signs and symptoms of MTPD may present during infancy or later in life; those that begin after infancy include hypotonia, muscle pain, rhabdomyolysis, and peripheral neuropathy. We report a Turkish boy diagnosed with MTPD after being investigated for polyneuropathy of unknown origin since infancy.