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DISTURBI DEL METABOLISMO INTERMEDIO DEGLI ACIDI GRASSI E DEI MITOCONDRI Compresa : DIFETTI CONGENITI DELLA OSSIDAZIONE MITOCONDRIALE DEGLI ACIDI GRASSI

Codice esenzione : RCG074

DEFICIT DI TRASPORTO DELLA CARNITINA fa riferimento a DISTURBI DEL METABOLISMO INTERMEDIO DEGLI ACIDI GRASSI E DEI MITOCONDRI


La beta-ossidazione mitocondriale ha un ruolo importante nella produzione di energia, soprattutto durante i periodi di digiuno. Il percorso e complesso e include 20 step individuali.
Sono stati individuati difetti ereditari di 11 proteine direttamente coinvolte in questo processo. Includono i difetti del trasporto di membrana della carnitina; della palmitoiltrasferasi carnitina I e II; della translocasi carnitna/acilcarnitina, della deidrogenasi dell'acil-CoA a catena molto lunga, media e corta; 2,4-dienoil-CoA riduttasi; 3-idrossiacil-CoA deidrogenasi; e della proteina trifunzionale mitocondriale.
Sebbene ci sia una sovrapposizione dei sintomi di presentazione e di coinvolgimento degli organi, questi disordini generalmente possono essere compresi in tre grandi gruppi caratterizzati dal sistema maggiormente coinvolto. Questi includono i fenotipi epatico, cardiaco e muscolare.
Il gruppo del fenotipo epatico e caratterizzato soprattutto da malattia simile alla sindrome di Reye con ipoglicemia che porta ad ottundimento e coma.
Quando le anomalie cardiache dominano la presentazione, c'e spesso una cardiomiopatia acuta o cronica ipertrofica o dilatativa.
Il fenotipo muscolare include di solito un'ipotonia da moderata a severa o rabdomiolisi ricorrente (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

Gregersen-N; Andresen-BS; Corydon-M; Corydon-TJ; Olsen-RKJ; Bolund-L; Bross-P
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
HUMAN-MUTATION. 2001; 18 (3) : 169-189

Onkenhout-W; Venizelos-V; Scholte-HR; de-Klerk-JBC; Poorthuis-BJHM
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects
JOURNAL-OF-INHERITED-METABOLIC-DISEASE. 2001; 24 (3) : 337-344

Ibdah-JA; Paul-H; Zhao-Y; Binford-S; Salleng-K; Cline-M; Matern-D; Bennett-MJ; Rinaldo-P; Strauss-AW
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
JOURNAL-OF-CLINICAL-INVESTIGATION. JUN 2001; 107 (11) : 1403-1409

Schafer-J; Reichmann-H
Sports in metabolic myopathies
AKTUELLE-NEUROLOGIE. FEB 2001; 28 (1) : 26-30

Takusa,-Y; Yamaguchi,-S
[Myopathies with miscellaneous disorders related to mitochondrial fatty acid oxidation: defective synthesis of ketone body, long-chain fatty acid transport defect, and muscular coenzyme Q10 deficiency]
Ryoikibetsu-Shokogun-Shirizu. 2001; (36): 90-4

Tung,-Y-C; Tsau,-Y-K; Chu,-L-W; Young,-C; Shen,-Y-Z
Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers.
J-Formos-Med-Assoc. 2001 Jul; 100(7): 484-7

Lagerstedt,-S-A; Hinrichs,-D-R; Batt,-S-M; Magera,-M-J; Rinaldo,-P; McConnell,-J-P
Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders.
Mol-Genet-Metab. 2001 May; 73(1): 38-45

Prip-Buus,-C; Thuillier,-L; Abadi,-N; Prasad,-C; Dilling,-L; Klasing,-J; Demaugre,-F; Greenberg,-C-R; Haworth,-J-C; Droin,-V; Kadhom,-N; Gobin,-S; Kamoun,-P; Girard,-J; Bonnefont,-J-P
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Mol-Genet-Metab. 2001 May; 73(1): 46-54

Gregersen,-N; Andresen,-B-S; Bross,-P
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
Eur-J-Pediatr. 2000 Dec; 159 Suppl 3: S213-8

Matern,-D; Schehata,-B-M; Shekhawa,-P; Strauss,-A-W; Bennett,-M-J; Rinaldo,-P
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Mol-Genet-Metab. 2001 Mar; 72(3): 265-8

Holzman,-R-S; Riley,-L-E; Aron,-E; Fetherston,-J
Perioperative care of a patient with acute fatty liver of pregnancy.
Anesth-Analg. 2001 May; 92(5): 1268-70

Jones,-P-M; Burlina,-A-B; Bennett,-M-J
Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.
J-Inherit-Metab-Dis. 2000 Nov; 23(7): 745-50

Sandhir,-R; Khan,-M; Singh,-I
Identification of the pathway of alpha-oxidation of cerebronic acid in peroxisomes.
Lipids. 2000 Oct; 35(10): 1127-33

Lopriore,-E; Gemke,-R-J; Verhoeven,-N-M; Jakobs,-C; Wanders,-R-J; Roeleveld-Versteeg,-A-B; Poll-The,-B-T
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
Eur-J-Pediatr. 2001 Feb; 160(2): 101-4

Corydon,-M-J; Vockley,-J; Rinaldo,-P; Rhead,-W-J; Kjeldsen,-M; Winter,-V; Riggs,-C; Babovic-Vuksanovic,-D; Smeitink,-J; De-Jong,-J; Levy,-H; Sewell,-A-C; Roe,-C; Matern,-D; Dasouki,-M; Gregersen,-N
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Pediatr-Res. 2001 Jan; 49(1): 18-23

den-Boer,-M-E; Ijlst,-L; Wijburg,-F-A; Oostheim,-W; van-Werkhoven,-M-A; van-Pampus,-M-G; Heymans,-H-S; Wanders,-R-J
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
Pediatr-Res. 2000 Aug; 48(2): 151-4