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Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Am J Med Genet A
February 2025
Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman.
Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis.
View Article and Find Full Text PDFDichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer.
Birth Defects Res
June 2024
Laboratory of Basic Medicine, Fuzong Clinical College of Fujian Medical University (900th Hospital of the Joint Logistics Support Force), Fuzhou, China.
Background: In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception.
Case: We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle.
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Clin Diabetes Endocrinol
June 2024
Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Article Synopsis
- Diabetes in young adults can be difficult to classify, particularly when involving diabetic ketoacidosis (DKA) seen in both type 1 and type 2 diabetes, and can also be linked to rare conditions like Beta-ketothiolase deficiency (BKD).
- A novel case is presented of a 34-year-old man with BKD who experienced DKA, which is unique because previous reports haven't documented diabetes in adults with BKD.
- The findings stress the need for regular HbA1c checks in those with BKD and raised blood sugar levels to identify possible concurrent diabetes, which can help avoid complications and improve treatment strategies.
Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.
Clin Chim Acta
June 2024
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address:
Context: Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl (C5-OH) acylcarnitine in blood can result from several genetic enzyme deficiencies: 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, primary 3-methylglutaconic aciduria, multiple biotin-dependent carboxylase deficiencies and biotin metabolism disorders. Biochemical tests help differentiate these causes while molecular tests are usually required for definitive diagnosis.
Case Description: We reported an infant girl with newborn screen findings of elevated C5-OH acylcarnitine.
D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.
Int J Mol Sci
April 2024
Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor.
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