1/23. Multiple acyl-coenzyme a dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme a dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry.- - - - - - - - - - ranking = 1keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
2/23. Inborn defects of fatty acid oxidation: a preventable cause of SIDS.Inborn errors of fatty acid oxidation, including medium chain acyl CoA dehydrogenase (MCAD) deficiency are readily detectable and treatable metabolic disorders in which recognition of symptoms is important. Symptoms occur when there is fasting, often associated with illness. If not diagnosed, these inborn errors of metabolism can result in sudden death classified as SIDS. These disorders can be diagnosed by ordering plasma or blood spot acylcarnitine profiles.- - - - - - - - - - ranking = 0.014305116795786keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
3/23. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in beta-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neonatal adaptation and the subsequent six months of life and a trial of carnitine supplementation are reported. The rapidity with which long chain fatty acid metabolites can accumulate and induce secondary carnitine deficiency within a few hours after birth in an infant with CATR is noteworthy. CONCLUSION: High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sufficient to avoid secondary carnitine deficiency as in severe forms of CATR. Therefore simultaneous use of insulin and glucose may be necessary to control neonatal lipolysis. carnitine supplementation and the possible adverse effects of MCT systematically administrated, should be further assessed in patients with CATR.- - - - - - - - - - ranking = 0.020802939711719keywords = deficiency (Clic here for more details about this article) |
4/23. Short-chain hydroxyacyl-coenzyme a dehydrogenase deficiency presenting as unexpected infant death: A family study.We describe a case of liver-specific short-chain hydroxyacyl-coenzyme a dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disorder. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.- - - - - - - - - - ranking = 1keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
5/23. Molecular basis of inherited medium-chain acyl-coa dehydrogenase deficiency causing sudden child death.Deficiency of medium-chain acyl-coa dehydrogenase (MCAD) is an important cause of sudden death in children. The majority of surviving individuals with MCAD deficiency studied to date are homozygous for a single point mutation at bp 985 of the MCAD mRNA (A985G). We have now identified a four-base-pair deletion in exon 11 of one allele of the MCAD gene in an American child who died of MCAD deficiency. The deletion mutation results in a frameshift and premature termination codon in the mutant MCAD mRNA. The second mutant allele contained the common point mutation A985G, and thus the proband was a compound heterozygote. Protein immunoblot analysis of the child's liver proteins revealed that the mutant MCAD proteins were barely detectable. Allele-specific oligonucleotide hybridization analysis performed on amplified exon 11 of the child's MCAD gene clearly identified both mutations. MCAD RFLP analysis of the patient's dna revealed heterozygosity at the Taq I MCAD RFLP site, thus, the two mutations are associated with different haplotypes. Therefore, we have identified a new mutation in the MCAD gene and have developed a nucleic-acid-based screening approach which allows the post mortem identification of MCAD deficiency.- - - - - - - - - - ranking = 0.82024881385628keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
6/23. Hydropericardium causing sudden infant death in glycogenosis type I: osmotic injury due to percutaneous silastic catheterization.BACKGROUND: The aim of this case report and the review of the literature is to demonstrate dangers when using peripherial silastic catheters in preterm and term newborns or infants. PATIENT, methods AND RESULTS: We report on a female infant with glycogenosis type I a (MIM 232200) due to glucose 6-phosphatase deficiency (homozygosity for R170X) and sudden infant death at the age of 9 months due to a rare catheter complication (hydropericardium with tamponade without perforation). CONCLUSION: We believe that this fatal complication was caused by local osmotic dysbalance due to direct contacts between atrial wall and the catheter tip. There is no relation known between patients with inborn errors of metabolism complicated by metabolic derangement and higher incidences of mechanical or non-mechanical catheter complications.- - - - - - - - - - ranking = 0.0029718485302456keywords = deficiency (Clic here for more details about this article) |
7/23. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. carnitine treatment resulted in dramatic improvement of the cardiac symptoms, echocardiographic, and EKG findings in both cases. family investigations revealed four sudden deaths, two of them corresponded to the classic SIDS phenotype. In postmortem tissue specimens available from three of them we could verify the homozygous mutation. In liver tissue reserved from two patients lipid droplet vacuolization could be observed; the lipid vacuoles were located mainly in the peripherolobular regions of the acini. In the heart tissue signs of generalized hypertrophy and lipid vacuoles were seen predominantly in the subendocardial areas in both cases; some aggregates of smaller lipid vacuoles were separated, apparently by membranes. review of all OCTN2 deficiency cases reported so far revealed that this is the first presentation of histopathology in classic familial sudden infant death syndrome (SIDS) with an established SLC22A5 mutation. In addition to the two affected homozygous cardiomyopathic children and three homozygous sudden death patients, the genetic analysis in 25 relatives showed 14 carriers. The mutant gene derived from five non-consanguineous grandparents, each of them having 6-14 brothers and sisters. This alone suggests a wide ancestral spread of the mutation in certain Roma subpopulations.- - - - - - - - - - ranking = 0.0029718485302456keywords = deficiency (Clic here for more details about this article) |
8/23. The Brugada ECG pattern in a neonate.We report a neonate resuscitated from sudden death with a Brugada ECG pattern several days after the initial event. The baby was subsequently diagnosed with a fatty acid oxidation disorder (medium chain acyl-coa dehydrogenase deficiency or MCAD). We speculate that free fatty acid accumulation can give rise to the Brugada ECG pattern.- - - - - - - - - - ranking = 0.2keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
9/23. autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS.A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation. On theoretical grounds, the genotype would have been expected to cause simple virilizing congenital adrenal hyperplasia but, because no other cause of death could be found, it is possible that it caused a fatally severe loss of enzyme activity in this child. If this assumption is valid, newborn screening would have prevented this death, had it been available.- - - - - - - - - - ranking = 0.014859242651228keywords = deficiency (Clic here for more details about this article) |
10/23. Haemorrhagic shock encephalopathy and sudden infant death.In 2 pairs of non-identical twins, haemorrhagic-shock encephalopathy syndrome developed in 1 co-twin while the other died of sudden infant death syndrome. The twin pairs were aged 3 and 4 months, respectively, and no cause was identified. We suggest that stress protein deficiency may underlie both syndromes.- - - - - - - - - - ranking = 0.0029718485302456keywords = deficiency (Clic here for more details about this article) |
| | Next -> |