Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis

Abstract

The greater importance of glycerol as a gluconeogenetic substrate in children than in adults may explain the episodes in young patients with GKD, often elicited by catabolic stress. With meals at frequent intervals, access to glucose and avoidance of strenuous sports, the prognosis is good for a normal adult life of a young child with isolated GKD and symptoms of hypoglycaemia.

Genomics and Genetics in the Biology of Adaptation to Exercise

“…Another lipid metabolism-related gene pertaining to exercise intolerance is that encoding very-long-chain acyl-CoA dehydrogenase ( ACADVL ) (283). Recently, a 20-year follow-up study of two boys with glycerol kinase (GK) deficiency due to mutations in the GK gene was reported (118). Both subjects showed pronounced exercise intolerance in childhood, but the exercise-related symptoms had disappeared when they were retested at 23 and 31 years of age (118).…”

“…Recently, a 20-year follow-up study of two boys with glycerol kinase (GK) deficiency due to mutations in the GK gene was reported (118). Both subjects showed pronounced exercise intolerance in childhood, but the exercise-related symptoms had disappeared when they were retested at 23 and 31 years of age (118). Other exercise intolerance-associated genes affecting skeletal muscle function or structure include solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ( SLC25A4 ) (225), lysosomal-associated membrane protein 2 ( LAMP2 ) (207), thymidine kinase 2, mitochondrial ( TK2 ) (363), electron-transferring-flavoprotein dehydrogenase ( ETFDH ) (91), sarcoglycan, alpha ( SGCA ) (195) and sarcoglycan, gamma ( SGCG ) (350).…”

Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications

“…In contrast to complex GKD, isolated GKD may be either symptomatic or asymptomatic; however, the phenotype may change over time, suggesting no strict genotype-phenotype correlation [ 17 ]. The symptomatic form, also referred to as the juvenile form, presents with intermittent emesis, ketosis and acidosis, lethargy, hypoglycemia, unconsciousness, and seizures in early childhood, but symptoms appear to improve with time [ 17 ].…”

“…In contrast to complex GKD, isolated GKD may be either symptomatic or asymptomatic; however, the phenotype may change over time, suggesting no strict genotype-phenotype correlation [ 17 ]. The symptomatic form, also referred to as the juvenile form, presents with intermittent emesis, ketosis and acidosis, lethargy, hypoglycemia, unconsciousness, and seizures in early childhood, but symptoms appear to improve with time [ 17 ]. The variation of symptoms between childhood and adulthood has been attributed to a relative glucose deficit in children in which hepatic glucose output is unable to meet the metabolic demands during periods of prolonged starvation or catabolism [ 17 ].…”

“…The symptomatic form, also referred to as the juvenile form, presents with intermittent emesis, ketosis and acidosis, lethargy, hypoglycemia, unconsciousness, and seizures in early childhood, but symptoms appear to improve with time [ 17 ]. The variation of symptoms between childhood and adulthood has been attributed to a relative glucose deficit in children in which hepatic glucose output is unable to meet the metabolic demands during periods of prolonged starvation or catabolism [ 17 ]. Management of isolated GKD, therefore, is focused on avoiding prolonged fasting and on treatment with dextrose-containing fluids in hospitalized patients who are unable to tolerate oral intake.…”