3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

1996 ◽  
Vol 19 (2) ◽  
pp. 223-226 ◽  
Author(s):  
J. Jaeken ◽  
M. Detheux ◽  
L. Van Maldergem ◽  
J. P. Frijns ◽  
P. Alliet ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Inborn Errors ◽  
Phosphoserine Phosphatase ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

scholarly journals Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

2000 ◽  
Vol 67 (6) ◽  
pp. 1389-1399 ◽  
Author(s):  
Leo W.J. Klomp ◽  
Tom J. de Koning ◽  
Helga E.M. Malingré ◽  
Ellen A.C.M. van Beurden ◽  
Miny Brink ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Dehydrogenase Deficiency ◽  
Neurometabolic Disorder ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

scholarly journals The biosynthesis of serine and glycine in Pseudomonas AM1 with special reference to growth on carbon sources other than C1 compounds

1971 ◽  
Vol 121 (5) ◽  
pp. 753-762 ◽  
Author(s):  
W. Harder ◽  
J. R. Quayle
Keyword(s):  
Essential Role ◽  
Carbon Sources ◽  
Enzymic Activity ◽  
Serine Hydroxymethyltransferase ◽  
The Other ◽  
Wild Type ◽  
Phosphoserine Phosphatase ◽  
Wild Type Phenotype ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

1. A mutant, 20S, of Pseudomonas AM1 was obtained that requires a supplement of serine to grow on succinate, lactate or ethanol. This mutant lacks phosphoserine phosphatase and revertants to wild-type phenotype regained this enzymic activity showing that the phosphorylated pathway of serine biosynthesis is necessary for growth on these three substrates. 2. The requirement for supplemental serine by mutant 20S could be met by glycine, suggesting that Pseudomonas AM1 can obtain C1 units from glycine. 3. Mutant 20S grows on C1 compounds at a lower rate compared with the wild type. Supplementation with serine stimulated the growth rate of the mutant suggesting that the phosphorylated pathway of serine biosynthesis plays some role, but not an essential role, during growth on C1 compounds. 4. A mutant, 82G, was obtained that requires a supplement of glycine to grow on succinate, lactate or ethanol. When grown in such supplemented media, the mutant lacks serine hydroxymethyltransferase and revertants to wild-type phenotype regained enzymic activity showing that during growth on succinate, lactate or ethanol, glycine is made from serine via serine hydroxymethyltransferase, and that the organism can obtain C1 units from glycine. 5. Mutant 82G grew on methanol and then contained serine hydroxymethyltransferase suggesting that this enzyme is necessary for growth on C1 compounds and that Pseudomonas AM1 may synthesize two such enzymes, one used in growth on C1 compounds, the other used in growth on other substrates. Mutant 82G might lack the latter enzyme. 6. Phosphoglycerate dehydrogenase is specifically inhibited by l-serine and the regulatory implications of this are discussed.

scholarly journals 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

1996 ◽  
Vol 74 (6) ◽  
pp. 542-545 ◽  
Author(s):  
J Jaeken ◽  
M Detheux ◽  
L Van Maldergem ◽  
M Foulon ◽  
H Carchon ◽  
...  
Keyword(s):  
Inborn Error ◽  
Dehydrogenase Deficiency ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges

2017 ◽  
Vol 32 (6) ◽  
pp. 543-549 ◽  
Author(s):  
Paul J. Benke ◽  
Ryan J. Hidalgo ◽  
Bruce H. Braffman ◽  
Judith Jans ◽  
Koen L.I. van Gassen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Phenotypic Variability ◽  
Growth Failure ◽  
Psychomotor Retardation ◽  
Intermediate Phenotype ◽  
Psychomotor Delay ◽  
Developmental Effects ◽  
Phenotypic Spectrum ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging.

L-Serine regulates the activities of microglial cells that express very low level of 3-phosphoglycerate dehydrogenase, an enzyme forL-serine biosynthesis

2001 ◽  
Vol 64 (4) ◽  
pp. 392-401 ◽  
Author(s):  
Hiroki Sugishita ◽  
Yasuhide Kuwabara ◽  
Kazuko Toku ◽  
Lisa Doi ◽  
Lihua Yang ◽  
...  
Keyword(s):  
Microglial Cells ◽  
Low Level ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

1995 ◽  
Vol 41 (8) ◽  
pp. 1109-1114 ◽  
Author(s):  
M S Rashed ◽  
P T Ozand ◽  
M J Bennett ◽  
J J Barnard ◽  
D R Govindaraju ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Dehydrogenase Deficiency ◽  
Sudden Infant Death ◽  
Diagnostic Methods ◽  
First Episode ◽  
Acid Oxidation ◽  
Sudden Infant ◽  
Inborn Errors ◽  
Postmortem Diagnosis ◽  
Acylcarnitine Analysis

Abstract Fatty acid oxidation (FAO) disorders represent a frequently misdiagnosed group of inborn errors of metabolism. Some patients die at the first episode of fasting intolerance and, if appropriate investigations are not undertaken, often meet the criteria of sudden infant death syndrome (SIDS). To expand existing protocols for the postmortem diagnosis of FAO and other metabolic disorders, we tested the hypothesis that analysis for acylcarnitine in bile, a specimen readily available at autopsy, may be utilized for diagnostic purposes. Using electrospray/tandem mass spectrometry, we analyzed for acylcarnitine postmortem bile specimens from two infants with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one infant with glutaryl-CoA dehydrogenase deficiency, and 17 uninformative SIDS cases as controls. The affected cases, and none of the controls, showed marked accumulation of C10-C18 acylcarnitines or glutarylcarnitine (acyl/free carnitine ratio: 5.2, 2.7, and 1.9, respectively; controls 0.2 +/- 0.1). In one patient, all other diagnostic methods were uninformative, suggesting that bile acylcarnitine profiling could lead to identification of previously overlooked cases.

scholarly journals Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

2010 ◽  
Vol 34 (1) ◽  
pp. 181-184 ◽  
Author(s):  
L. Tabatabaie ◽  
L. W. J. Klomp ◽  
M. E. Rubio-Gozalbo ◽  
L. J. M. Spaapen ◽  
A. A. M. Haagen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Clinical Spectrum ◽  
Phosphoglycerate Dehydrogenase

Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

2017 ◽  
Vol 16 (04) ◽  
pp. 243-247
Author(s):  
Maria Papadopoulou ◽  
Iokasti Koutsampasopoulou ◽  
Despoina Tramma ◽  
Athanassios Evangeliou ◽  
Kyriaki Papadopoulou-Legbelou
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Inborn Errors ◽  
Metabolism Disorder ◽  
Asymptomatic Patients ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Brain Energy ◽  
Abnormal Brain

AbstractShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

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