Τίτλος:
Aldolase A deficiency: Report of new cases and literature review
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in ALDOA, are extremely rare and cause hemolytic anemia and/or recurrent episodes of rhabdomyolysis, usually precipitated by fever. In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the ALDOA gene who presented with episodic rhabdomyolysis, we review all previously published cases and discuss the most valuable features for diagnosis of this rare disorder. © 2021 The Authors
Συγγραφείς:
Papadopoulos, C.
Svingou, M.
Kekou, K.
Vergnaud, S.
Xirou, S.
Niotakis, G.
Papadimas, G.K.
Περιοδικό:
Molecular Genetics and Metabolism Reports
Εκδότης:
W B SAUNDERS CO-ELSEVIER INC
Λέξεις-κλειδιά:
acylcarnitine; ammonia; bilirubin; creatine kinase; ferritin; fructose bisphosphate aldolase; infusion fluid, adult; ammonia blood level; arm weakness; Article; bilirubin blood level; case report; child; clinical article; clinical examination; clinical feature; clinical laboratory; creatine kinase blood level; deltoid muscle; electromyography; failure to thrive; ferritin blood level; fever; genetic analysis; good general condition; growth retardation; hand; hemolytic anemia; hereditary fructose intolerance; homozygosity; human; human cell; infant; language delay; lordosis; male; metabolic disorder; missense mutation; motor unit potential; muscle biopsy; muscle tone; myalgia; myoglobinuria; myopathy; neonatal intensive care unit; nerve conduction; newborn; poor general condition; preschool child; psychomotor development; quadriceps femoris muscle; recurrent disease; rehydration; rhabdomyolysis; Sanger sequencing; scapula; school child; segregation analysis; tachypnea; virus infection; Western blotting; whole exome sequencing; young adult
DOI:
10.1016/j.ymgmr.2021.100730
