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[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2022
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the genetic etiology of a child with suspected propionic acidemia.
Methods: Genomic DNA was extracted from peripheral blood sample of the child and subjected to high-throughput sequencing to screen pathogenic variants of genes associated with methylmalonic acidemia and propionic acidemia, including MUT, MMACHC, MMAA, MMAB, MMADHC, LMBRD1, PCCA, PCCB and SLC22A5. Candidate variants were verified by Sanger sequencing of the proband, her parents and sister.
The human B trafficking chaperones: CblA, ATR, CblC and CblD.
Methods Enzymol
May 2022
Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI, United States.
Mammals rely on an elaborate intracellular trafficking pathway for processing and delivering vitamin B to two client enzymes. CblC (also known as MMACHC) is postulated to receive the cofactor as it enters the cytoplasm and converts varied B derivatives to a common cob(II)alamin intermediate. CblD (or MMADHC) reacts with CblC-bound cob(II)alamin forming an interprotein thiolato-cobalt coordination complex and, by a mechanism that remains to be elucidated, transfers the cofactor to methionine synthase.
View Article and Find Full Text PDFReport of rapid diagnosis and precise management of related intracellular cobalamin defect.
BMJ Case Rep
June 2021
Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India
Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the gene, known to cause homocystinuria, cblD type (MIM #277410).
View Article and Find Full Text PDFMMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.
Mol Genet Metab Rep
March 2021
Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Mutations in the gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or combined MMA/HC, and usually suffer developmental delay and cognitive deficits. The most frequent genetic alterations associated with disease generate MMADHC truncated proteins, in many cases due to mutations that create premature termination codons (PTC).
View Article and Find Full Text PDFClinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Turk J Med Sci
June 2021
Department of Pediatric Metabolism, University Hospital Çukurova, Adana, Turkey
Background/aim: Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 or mut– enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. While onset of the disease ranges from the neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in the early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis with progressive renal failure, basal ganglia injury and cardiomyopathy.
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