Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype

Saudi Medical Journal

Volumn 31, Issue 8, 2010, Pages 931-934

  Al Sannaa, Nouriya A ^a   Cheriyan, George M ^a  

^a DHAHRAN HEALTH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; GLUCOSE; CARNITINE ACYLTRANSFERASE;

ARTICLE; CARBOHYDRATE DIET; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CASE REPORT; CEREBROVASCULAR ACCIDENT; CHILD; DIET SUPPLEMENTATION; DISEASE COURSE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; INFANT; INSULIN INFUSION; KIDNEY CALCIFICATION; LOW FAT DIET; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; METABOLIC DISORDER; MIDDLE CEREBRAL ARTERY OCCLUSION; MORBIDITY; MORTALITY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE SCANNER; PHENOTYPE; SAUDI ARABIA; SIBLING; NEWBORN;

CARNITINE ACYLTRANSFERASES; HUMANS; INFANT, NEWBORN; PHENOTYPE;

EID: 77958497605     PISSN: 03795284     EISSN: 16583175     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-Versteeg AB, et al. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr 2001; 160: 101-104.
2. Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, et al. Response to therapy in carnitine/ acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A 2004; 126A: 150-155.
3. Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, et al. Familial neonatal SIDS revealing carnitineacylcarnitine translocase deficiency. Eur J Pediatr 2000; 159: 82-85.
4. Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A. Prospective treatment in carnitine-acylcarnitine translocase deficiency. J Inherit Metab Dis 2007; 30: 815.
5. Wilcken B. Fatty acid oxidation disorders: outcome and longterm prognosis. J Inherit Metab Dis 2010: 5. [Epub ahead of print]