Enzymes of fructose metabolism in human liver

Heinz, Fritz; Lamprecht, Walther; Kirsch, Joachim

doi:10.1172/jci105872

Cited by 127 publications

(77 citation statements)

References 28 publications

(17 reference statements)

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“…The activity of D-glycerate kinase present in human liver extracts prepared in water (table 1) was in close agreement with the mean value of 0.13 U reported by Heinz et al [6]. The enzyme was, however, quite unstable in such extracts.…”

Section: D-glycerate Kinase Assay In Human Liversupporting

confidence: 90%

“…In the present work, it was found that the blank, corresponding to the oxidation of NADH in the absence of D-glycerate, amounted to about 1/5th of the D-glycerate kinase activity present in rat liver (-3 U/g fresh wt). It was, however, approximately equal to the D-glycerate kinase activity present in human livers (0.13 U/g as a mean according to [6]), preventing an accurate determination of this activity in human biopsy specimens.…”

Section: D-glycerate Kinase Assaymentioning

confidence: 89%

“…It appears, however, that, under normal circumstances, most of the glyceraldehyde is phosphorylated by triokinase [15], which in human liver is fairly active [6].…”

Section: D-glycerate Metabolism In the Livermentioning

confidence: 99%

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D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

Schaftingen

1989

FEBS Letters

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D-Glycerate kinase was measured in human livers thanks to a new, sensitive radiochemical assay. The enzyme was extremely unstable in extracts prepared in water, but was partly stabilized in a homogenization mixture containing inorganic phosphate, D-glycerate and EGTA. When extracted in such a stabilizing mixture, glycerate kinase activity amounted to 0.86 + 0.21 U/g in control rivers and to 0.03 U/g in the liver of a patient with D-glyceric aciduria. In contrast, Dglycerate dehydrogenase (glyoxylate reductase) and triokinase activities were not deficient in the liver of the same patient.It is concluded that D-glycerate kinase deficiency is a cause of D-glyceric aciduria.

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Section: D-glycerate Kinase Assay In Human Liversupporting

confidence: 90%

Section: D-glycerate Kinase Assaymentioning

confidence: 89%

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D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

Schaftingen

1989

FEBS Letters

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“…The latter reaction is of little or no importance in the human (10). Evidence for the catabolism of serine via Dglycerate stems from the existence of patients (1 l ) with L-glyceric aciduria and a partial deficiency of D-glycerate dehydrogenase (enzyme 6), although the flux through this pathway should be small, in view of the low activities of D-glycerate kinase in human as compared to rat liver (12,13). The absence of L-glyceric acid excretion in patients with D-glyceric acidemia provides an indication that their D-glycerate dehydrogenase activity is normal.…”

Section: Discussionmentioning

confidence: 99%

D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism

et al. 1987

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ABSTRACT. A mentally retarded girl with epileptic sei-CASE REPORT zures is described. urinary organic acid screening ievealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the 0-acetylated (-)-menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihydroxyacetone (1 g/kg) caused a sharp increase of the Dglycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency. (Pediatr Res 21: 502-506, 1987) Abbreviations GAPD, glyceraldehyde-3-phosphate dehydrogenase NKH, nonketotic hyperglycinemia TMS, trimethylsilyl Hb, hemoglobin D-Glyceric acidemia seems to be an extremely rare inborn error of metabolism. To date only three isolated cases have been reported (1-3). The clinical presentation of the patients varied: the patient described by Wadman et al. (2) had a chronic metabolic acidosis and only a moderate developmental delay, whereas the patients described by Brandt et al. (I) and Grandgeorge et al. (3) showed all characteristic symptoms of NKH such as extreme hypotonia, deep mental retardation, myoclonic jerks, and grand ma1 seizures. Brandt's patient not only had the clinical signs of NKH, but actually had elevated levels of glycine in his plasma and urine. The concentration of D-glycerate in urine of the previously described patients ranged from 1-1 16 mmol/liter.A clear-cut enzyme defect leading to D-glyceric acidemia has not yet been found, although K$lvraa et al. (4) found evidence for a decreased activity of D-glycerate dehydrogenase in the fresh leukocytes of Brandt's patient. Enzyme studies were not performed in the other two patients.Herein we describe a patient with ~-glyceric acidemia. Results of biochemical investigations as well as of clinical studies, designed to obtain more insight in the metabolic defect, will be given.Received June 2, 1986; accepted December 19, 1986. Correspondence Dr. M. Duran, University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Nieuwe Gracht 137, 3512 LK Utrecht, The Netherlands.The proband B., the first child of healthy, nonrelated parents, was born at home after an uneventful gestation of 38 wk; her birth weight was 2800 g. There were signs of perinatal asphyxia: crying started late. Apgar scores were not recorded. The mother's next pregnancy ended with a spontaneous abortion at 1 1 wk; the third pregnancy resulted in the birth of a child with spina bifida who died in the neonatal period. Subsequently two healthy children were born.In the first weeks of life the patient was noted to be hypotonic and she had severe feeding difficulties. Motor development was slo...

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“…This pathway might be the major source of D-glyceric acid (Rauschenbach and Lamprecht 1964). However, under normal circumstances, most of the glyceraldehyde is phosphorylated to D-glyceraldehyde 3-phosphate by triokinase due to its high activity in human liver (Heinz et al 1968, Van den Berghe 1978.…”

Section: Biochemical Findingsmentioning

confidence: 99%

D-glyceric aciduria

Dimer

Schuck

Streck

et al. 2015

An. Acad. Bras. Ciênc.

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Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unknown. The main clinical and neurological symptoms seen in affected patients include progressive encephalopathy, hypotonia, psychomotor and mental retardation, microcephaly, seizures, speech delay, metabolic acidosis, and even death. In this review we shall discuss these clinical and biochemical findings, as well as diagnosis and treatment of affected patients in order to raise awareness about this condition.

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Enzymes of fructose metabolism in human liver

Cited by 127 publications

References 28 publications

D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism

D-glyceric aciduria

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