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Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. [ 1 ]
57279 Ensembl ENSG00000178537 ENSMUSG00000032602 UniProt O43772 Q9Z2Z6 RefSeq (mRNA) NM_000387 NM_020520 RefSeq (protein) NP_000378 NP_065266 Location (UCSC) Chr 3: 48.86 – 48.9 Mb Chr 9: 108.54 – 108.56 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 Identifiers Symbol SLC25A20 Alt. symbols CACT NCBI gene ...
Carnitine-acylcarnitine translocase (CACT) is an integral inner mitochondrial membrane protein that transports palmitoylcarnitine from the intermembrane space into the matrix in exchange for a molecule of free carnitine that is subsequently moved back out of the mitochondria into the cytosol.
The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]
Carnitine palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial enzyme responsible for the formation of acyl carnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from coenzyme A to l-carnitine.
The main phenotypical effect of autosomal recessive mutations, either compound heterozygous or homozygous, [6] in the SLC22A5 gene is systemic primary carnitine deficiency, [7] characterized by impaired carnitine transport, urinary carnitine wasting, low serum carnitine levels, reduced intracellular carnitine accumulation, impaired beta ...
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.
Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency by producing a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed.