Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020672 (hypothermia)
 17,327 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Carnitine-acylcarnitine translocase deficiency, like other defects of mitochondrial fatty acid oxidation, is an autosomal, recessively inherited disorder. When the deficiency is near total, it is usually fatal, affects life soon after birth, and constitutes one of the causes of skeletal muscle myopathy, cardiac and liver abnormalities, and childhood sudden death. The presenting features have included neonatal distress, convulsions, hypoglycemia, hyperammonemia, hypoketonemia, intermittent dicarboxyluria, hypothermia, apnea, neurological deterioration, and hypocarnitinemia with grossly elevated acylcarnitines. Two cases of partial translocase deficiency (4-6% residual activity) with milder symptoms and without cardiac involvement have also been identified. Evidence so far indicates that the translocase protein is the product of a single gene. In two cases of translocase deficiency, the accompanying mutations have been identified. The benefits of prenatal diagnosis have been provided to the affected families by assays of the translocase and/or fatty acid oxidation in cultured amniotic/villous cells. In one such case genetic counseling was made possible even when the only specimen available from a deceased sibling was the Guthrie card.
 ...
PMID:Carnitine-acylcarnitine translocase deficiency. 1040 57

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder that results in long-chain fatty acids being unavailable for mitochondrial beta-oxidation and ketogenesis. It can present in the neonatal period or infancy with a severe clinical form, typically with convulsions, hypothermia, encephalopathy, cardiomyopathy and liver dysfunction, or with a milder phenotype with episodes of hypoglycaemia and hyperammonaemia during intercurrent illness. Investigations show hypoketonaemia, intermittent dicarboxyluria and hypocarnitinaemia with grossly elevated acylcarnitines. Enzyme assay or DNA analysis confirms the diagnosis. The severe phenotype results in severe disability or death. The less severe phenotype can also cause significant disability secondary to hypoglycaemia and/or hyperammonaemia at presentation. We report the outcome of two siblings with CACT deficiency. The index patient presented at the age of 2 months during a respiratory illness with hypoglycaemia, hyperammonaemia and cardiorespiratory collapse. Acylcarnitine profiles showed decreased free carnitine but striking elevations of long-chain acylcarnitines. Urine organic acids showed dicarboxylic aciduria. Fatty acid oxidation studies showed reduced oleate and myristate oxidation. His acylcarnitine profile normalized after he was started on a medium-chain triglyceride (MCT) low-fat diet and carnitine supplementation. Low CACT activity on enzyme assay confirmed the diagnosis. He has resulting profound developmental delay and epilepsy. The sibling was prospectively treated with a low-fat MCT diet and carnitine supplementation. Acylcarnitine profile at birth also showed elevated long-chain acylcarnitines. Fatty acid oxidation studies confirmed the diagnosis. To date he has normal development and has not had any significant periods of hypoglycaemia or hyperammonaemia.
 ...
PMID:Prospective treatment in carnitine-acylcarnitine translocase deficiency. 1750 64