ABSTRACT
Carnitine-acylcarnitine translocase deficiency, a rare beta-oxidation defect, is manifest in most cases by cardiomyopathy and death in early childhood. We report an affected patient, 3 years of age, who has had no serious complications. The residual enzyme activity in fibroblasts was higher than in previously reported patients, which may explain the benign clinical course.
Subject(s)
Carnitine Acyltransferases/deficiency , Blood Glucose , Carnitine/blood , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors/genetics , PhenotypeABSTRACT
A boy had neonatal seizure, lethargy, and metabolic acidosis at presentation. He recovered completely, but the recurrence of a similar episode with associated cardiomyopathy and dicarboxylic aciduria at 10 months of age led to the recognition of a fatty acid oxidation defect. A diagnosis of very long chain acyl-coenzyme A dehydrogenase deficiency was later made by enzyme assay in culture fibroblasts from this child, as well as in cultured amniotic cells from a sibling fetus. This prenatal diagnosis forestalled neonatal injury by close clinical and metabolic monitoring of the second infant. Early diagnosis and management should potentially improve the generally poor prognosis for patients with very long chain acyl-coenzyme A dehydrogenase deficiency.
Subject(s)
Acidosis/etiology , Fatty Acid Desaturases/deficiency , Prenatal Diagnosis , Seizures/etiology , Sleep Stages , Acidosis/therapy , Acyl-CoA Dehydrogenase, Long-Chain , Amniocentesis , Carnitine/therapeutic use , Diagnosis, Differential , Female , Glucose/therapeutic use , Humans , Infant , Infant, Newborn , Male , Prognosis , Seizures/therapyABSTRACT
Carnitine-acylcarnitine translocase deficiency is a newly recognized inborn error of metabolism that involves transport of long-chain fatty acids into mitochondria, which in turn impairs mitochondrial beta-oxidation, and ketogenesis. We report a new familial example; the affected twins had neonatal distress, hyperammonemia, and transient intracardiac conduction defects. Clinical and biochemical analysis of both our patients and the two previously reported patients revealed that this inherited defect could be manifested during the neonatal period without any of the signs classically associated with fatty oxidation defects. In contrast, all four patients had sustained and "isolated" hyperammonemia, which could be misinterpreted as being caused by urea cycle defects. We conclude that carnitine-acylcarnitine translocase deficiency is a potential differential diagnosis in neonates with unexplained neonatal hyperammonemia. Cardiac and muscle involvement may represent further early pivotal symptoms.
Subject(s)
Ammonia/blood , Carnitine Acyltransferases/deficiency , Diseases in Twins/diagnosis , Lipid Metabolism, Inborn Errors/diagnosis , Carnitine Acyltransferases/analysis , Diagnosis, Differential , Diseases in Twins/etiology , Diseases in Twins/genetics , Fatal Outcome , Female , Humans , Infant, Newborn , Infant, Premature , Lipid Metabolism, Inborn Errors/blood , Lipid Metabolism, Inborn Errors/etiology , Lipid Metabolism, Inborn Errors/geneticsABSTRACT
A deficiencia da enzima hexose 1-fosfato uridiltransferase (GALT) provoca a doença, transmitida por caracter autossomico recessivo, conhecida como galactosemia congenita. O padrao isoeletroforetico da GALT foi estudado em eritrocitos (normais e variante Duarte), leucocitos, fibroblastos de pele em cultura, figado e celulas HEPG2 em cultura, usando mini-gel de poliacrilamida, atraves do Phast System Pharmacia. Os extratos enzimaticos foram preparados em uma soluçao de ditiotreitol a 8mM e concentrados apos centrifugaçao no Minicon A25. A separaçao isoeletroforetica foi feita em 2000V,510Vh e 15 graus Centigrado durante 30 minutos. Apos a separaçao foi feita uma coloraçao especifica para a enzima utilizando um corante de tetrazolio. Os resultados obtidos indicam que a heterogeneidade da GALT pode ser facilmente demonstrada por esta tecnica, que e tambem precisa para o diagnostico dos variantes da GALT.