Excretion of short-chain n-acylglycines in the urine of a patient with D-glyceric acidemia

Kølvraa, Steen; Gregersen, N.; Brandt, N. J.

doi:10.1016/0009-8981(80)90174-6

Cited by 9 publications

(3 citation statements)

References 17 publications

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“…Perhaps a coincidental association became accepted because this patient was the subject of eight separate publications. 47,54,[57][58][59][60][61][62] Whether this association is genuine or coincidental, glyceric aciduria can easily be excluded in cases of hyperglycinemia by analysis of urine organic acids using an appropriate extraction technique -a good practice in any case of suspected NKH.…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

Korman

Gutman

2002

Develop Med Child Neuro

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Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

Korman

Gutman

2002

Develop Med Child Neuro

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“…In a patient affected by D-glyceric aciduria, there was a significant elevation of hydroxyacids, free and total short-chain fatty acids, and elevated amounts of butyric and hexanoic acids together with butyrylglycine, hexanoylglycine, and suberic acid (Kolvraa et al 1980). Based on the increased excretion of these compounds, it may be hypothesized that the diminished glycine cleavage activity is, at least in part, due to inhibition by 2-methylbutyryl-CoA and isobutyryl-CoA (compounds known to inhibit the glycine cleavage system).…”

Section: Biochemical Findingsmentioning

confidence: 98%

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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“…Additional investigations led us to suggest that the D-glycerate dehydrogenase deficiency was the primary defect and that the glycine cleavage defect was a secondary phenomenon, probably due to inhibition (Kolvraa et al, 1980a). Based on the finding of pathological amounts of glycine conjugates of saturated, short-and mediumchained fatty acids (isobutyrylglycine, 2-methylbutyrylglycine, isovalerytglycine, butyrylgtycine and hexanoylglycine) (Kolvraa et at., 1980b) combined with the in vitro observation that the glycine cleavage system was inhibited by 2-methylbutyryl-CoA and lsobutyryl-CoA (Kolvraa, 1979), we then suggested that the hyperglycinaemia might at least partly be due to the intracellular accumulation of these acyl-CoA esters.…”

mentioning

confidence: 98%

In vivostudies on the metabolic derangement in a patient with D‐glyceric acidaemia and hyperglycinaemia

Kølvraa

Gregersen

Christensen

1983

J of Inher Metab Disea

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In a mentally retarded boy, who excreted elevated amounts of glycine, D-glyceric acid and acylglycines and whose cells exhibited diminished D-glycerate dehydrogenase and glycine cleavage activity, investigations have been undertaken aiming at characterizing the relationship between the different accumulations. This was done in vivo by trying in a specific manner to alter in turn the degree of accumulation of each of the three classes of compounds and then monitoring changes in the others. The results suggest, that the D-glyceric acid accumulation is directly caused by the genetic defect, since the D-glyceric acid excretion was not altered by changes in degree of accumulation of either glycine or acylglycines. Similarly alterations in acylglycine excretion caused alterations in glycine but not in D-glyceric acid excretion. Based on these findings a model for the pathogenesis behind the accumulations of acylglycines and glycine is proposed.

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Excretion of short-chain n-acylglycines in the urine of a patient with D-glyceric acidemia

Cited by 9 publications

References 17 publications

Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

D-glyceric aciduria

In vivostudies on the metabolic derangement in a patient with D‐glyceric acidaemia and hyperglycinaemia

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