Translocase deficiency

TYPE la VON GIERKE DISEASE [GLUCOSE 6-PHOSPHATASE DEFICIENCY) Type lb GLUCOSE 6-PHOSPHA TE e TRANSLOCASE DEFICIENCY... 

Hsu BY, lacobazzi V, Wang Z, Harvie H, Chalmers RA et al (2001) Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcamitine translocase deficiency. Mol Genet Metab 74 248-255... 

Carnitine translocase deficiency and glucose 6-phosphate transporter deficiency. 

A. A. M. Morris, S. I. Olpin, M. Brivet, et al. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. Journal of Pediatrics 132, 514 (1998). 

Carnitine translocase deficiency and glucose 6-phosphate transporter deficiency. For an explanation, see text. Section 22.5. 

Carnitine-acylcarnitine translocase deficiency Carnitine palmitoyltransferase type II deficiency 2... 

D.J, Heymans, H.S.A. Smit, G.P. (1995) J. Inker. Metab. Dis., 18, 230-232. A patient with lethal cardiomyopathy and a camitine-acylcamitine translocase deficiency. 

J Inherit Metab Dis 20 714-715. Carnitine-acylcamitine translocase deficiency—a mild phenotype. 

Pande, S.V., Brivet, M., Slama, A., Demaugre, R, Aufrant, C. Saudubray, J.M. (1993). J Clin Invest 91 1247-1252. Carnitine-acylcamitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. 

II or Pompe disease. Tyrosinemia type I, which mainly affects the liver and kidney, also manifests with hypertrophic cardiomyopathy. Conduction defects predisposing to arrhythmia are typically found in disorders of fatty acid oxidation (especially long-chain disorders, CPTII, and camitine-acylcamitine translocase deficiency), Keams-Sayre, and other primary mitochondrial defects. 

In the heart, fatty acid oxidation defects can cause cardiomyopathy. The cardiomyopathy is usually associated with a degree of hypertrophy. Cardiomyopathy is typical for severe fatty acid oxidation defects of long-chain fatty acids. Cardiomyopathy in those with carnitine transporter defect is typically dilated in nature without hypertrophy. Severe ventricular arrhythmias (ventricular tachycardia, ventricular fibrillation, torsades de pointes) occur in fatty acid oxidation defects. They are frequent in severe fatty acid oxidation defects of long-chain fatty acids and particularly prominent in camitine-acylcamitine translocase deficiency but can also occur in MCAD deficiency during decompensation. Atrioventricular block can occur but is rare. 

Defects of fatty acid catabolism, with the exception of SCAD deficiency, generally have elevation of more than one characteristic metabolite. MCAD deficiency is characterized by accumulation of C6, C8 (mainly) and C10 l species. LCAD and VLCAD are characterized by accumulation of C14 l, C14 2 and (usually) C16 and C18 l species. LCHADD and TFP deficiencies are characterized by the accumulation of OH-C16, 0H-C18 1 and usually at least one of the other long-chain species C14 1, C16 and C18 l. The CPT-II and CAT (carnitine/acylcarnitine translocase) deficiencies are characterized by marked elevation of both C16 and C18 1, but not C14 1. Multiple acyl-CoA deficiency (MAD) has several different etiologies, including electron transferring protein (ETF) deficiency, ETF-dehydrogenase deficiency and riboflavin deficiency. Disease patterns vary considerably. In severe forms of the disorder, a generalized marked elevation of mxiltiple intermediates is observed. CPT-I should be suspected when both C16 and Cl8 1 are very low in whole blood, especially if free carnitine is normal or elevated. 

Roschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ et al. Carni-tine-acylcarnitine translocase deficiency metabolic consequences of an impaired mitochondrial carnitine cycle. Clin Chim Acta 2000 298 55-68. 

---