Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain Acyl-CoA dehydrogenase deficiency: a case report
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PROVIDER: PRJEB60020 | ENA |
REPOSITORIES: ENA
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Project description:Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain Acyl-CoA dehydrogenase deficiency: a case report
| PRJEB60021 | ENA
Project description:A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
| PRJEB4676 | ENA
Project description:Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder (IMD) that affects the electron transfer chain and fatty acid oxidation. The late-onset form of MADD has a heterogenous clinical presentation that typically results in episodic lethargy, hypoglycemia, acidosis, and rhabdomyolysis during metabolic decompensations. Purpose: In this case report series we describe three cases of late-onset MADD presenting with hyperammonemia and encephalopathy, a less frequent but severe complication. Methods: the medical records of three patients with MADD and hyperammonemia were retrospectively analyzed for details surrounding their presentation and workup. Results: One patient had hyperammonemia to 445 μmol/L, obtundation, and seizures, requiring venovenous hemodialysis. Two patients had abnormal brain imaging findings. Two of the cases were initially diagnosed as hepatic encephalopathy, but treatment for this did not reverse the hyperammonemia. Workup for IMDs revealed biochemical profiles consistent with MADD, with non-diagnostic genetic testing. MADD-directed therapy led to a reversal of hyperammonemia and return to neurologic baseline of all patients. Conclusion: This series highlights hyperammonemia as a presentation of late-onset MADD, a potentially lethal but treatable disorder.
| S-EPMC11881097 | biostudies-literature
Project description:BackgroundShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals.Subject and methodsA Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed.ResultsOrganic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient.ConclusionsIn our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.
| S-EPMC4470102 | biostudies-literature
Project description:Fatty acids β-oxidation (FAO) is the main pathway of fatty acid degradation in organisms. Acyl-CoA dehydrogenase as the first major enzyme in FAO pathways, catalyzes the dehydrogenation reaction of α and β carbon atoms at the site under the action of FAD cofactor. Bioinformatics analysis showed that acdA gene in Mesorhizobium huakuii 7653R encodes the acyl-CoA dehydrogenase. M. huakuii 7653R acdA gene mutant strain and complementary strain were constructed by homologous recombination. mutant HKacdA exhibited delay in growth in AMS minimal medium with NH4Cl as nitrogen source and glucose as carbon source, and showed more sensitivity to H2O2. The function of M. huakuii acdA gene in symbiotic nitrogen fixation was studied through pot experiment of Astragalus sinicus. Mutant HKacdA was severely impaired in its ability to colonize the rhizosphere of A. sinicus. Compared with the plants inoculated with wild-type 7653R, the leaves of HKacdA-inoculated plants appeared were abnormally sparse and yellow, and exhibited obvious symptoms of nitrogen deficiency. Observation of root nodules and bacteroid morphology revealed that the nodules inoculated with HKacdA contained an abnormally thick cortex and bacteroid-containing cells, and some bacteroids accumulated poly-β-hydroxybutyrate (PHB) granules and appeared dissociation and senescent. The mass spectrometry combined with label-free technique was applied to study the differential expression of proteins in bacteroids. A total of 198 differentially expressed proteins were identifified were identifified including 120 up-regulated and 78 down-regulated proteins. Among the differentially expressed proteins, 38 proteins were related to redox，31 proteins were related to amino acid transport, and 11 proteins were connected with nitrogen fixation. Results showed that acdA gene plays a role in rhizobial bacteroid differentiation and nitrogen fixation by affecting amino acid transport, electron transport in nitrogen fixation and nitrogenase activity in nodule bacteroids.
2023-10-26 | PXD046434 |
Project description:The plasma concentrations of acyl coenzyme A binding protein (ACBP, also known as diazepam-binding inhibitor, DBI, or ‘endozepine’) increase with age and obesity, two parameters that are also the most important risk factors for cancer. In mice bearing MCA205 fibrosarcoma, antibody mediated ACBP/DBI neutralization enhanced the anticancer T-cell response in the context of chemoimmunotherapy. T-cells infiltrating MCA205 tumors were sorted and submitting to single-cell TCR sequencing and single-cell RNA sequencing (scRNAseq) to identify the mechanisms driving this improvement.
2024-09-11 | GSE242119 | GEO
Project description:Chlamydia muridarum Weiss genome sequencing
| PRJNA38161 | ENA
Project description:BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropathy. However, no patients of acute-onset MADD mimicking the GBS phenotype are reported previously.Case presentationTwo patients displayed acute-onset limb weakness, areflexia, and length-dependent sensory disturbances, which clinically indicate the diagnosis of GBS, but electrophysiological and cerebrospinal fluid results threw doubtful points to the initial diagnosis. The muscle biopsy showed lipid storage disorder; and compound heterozygous mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene were found in the two patients through targeted next generation sequencing, which provided the definite diagnostic evidences of late-onset MADD. Muscle weakness was quickly improved by riboflavin supplementation, but sensory disturbances required a long-term treatment.DiscussionThe present two cases have demonstrated that MADD can mimic GBS. Taking into consideration the significant differences of therapeutic regimen and prognosis, MADD should be included in the differential diagnosis of GBS.
| S-EPMC6306005 | biostudies-literature
Project description:Acyl-coA Binding Protein neutralization improves cancer immunosurveillance
| PRJNA1011354 | ENA
Project description:Chlamydia muridarum str. Weiss Genome sequencing
| PRJNA216925 | ENA