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Summary
LACTATE DEHYDROGENASE B DEFICIENCY (LDHBD)
614128
OMIM = Online Medalian Inheritance of Men
284435
12p12.1
very rare
mutation in the LDHB gene
symptoms
no consistent clinical signs or symptoms
laboratory finding
Lactate dehydrogenase (LDH) U/lplasma
Literature
Tylki-Szymanska A,Stradomska TJA newly discovered metabolic diseases due to defects in the pentose pathwayPostepy Biochem572168-1712011
Patil P,et al.Ketotic Hypoglycemia in Children with Previous Transient Congenital HyperinsulinismIndian Pediatr552167-1682018
Naik N,et al.Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathyNeurology89111195-11962017