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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

We present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. Clinically, the index patient presented with intract... Full description

Journal Title: American journal of human genetics 2007, Vol.80 (5), p.931-937
Main Author: Hart, Claire E
Other Authors: Race, Valerie , Achouri, Younes , Wiame, Elsa , Sharrard, Mark , Olpin, Simon E , Watkinson, Jennifer , Bonham, James R , Jaeken, Jaak , Matthijs, Gert , Van Schaftingen, Emile
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1852735
title: Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
format: Article
creator:
  • Hart, Claire E
  • Race, Valerie
  • Achouri, Younes
  • Wiame, Elsa
  • Sharrard, Mark
  • Olpin, Simon E
  • Watkinson, Jennifer
  • Bonham, James R
  • Jaeken, Jaak
  • Matthijs, Gert
  • Van Schaftingen, Emile
subjects:
  • Amino Acid
  • Amino Acid Metabolism
  • Amino Acid Metabolism, Inborn Errors - drug therapy
  • Amino Acid Metabolism, Inborn Errors - genetics
  • Amino Acid Metabolism, Inborn Errors - metabolism
  • Amino Acid Metabolism, Inborn Errors - pathology
  • Amino Acid Sequence
  • Amino acids
  • Article
  • Base Sequence
  • Biological and medical sciences
  • Brain
  • Brain - pathology
  • Case studies
  • Cells
  • Child
  • Child, Preschool
  • DNA - genetics
  • Female
  • Frameshift Mutation
  • Fundamental and applied biological sciences. Psychology
  • General aspects. Genetic counseling
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Glycine
  • Glycine - deficiency
  • Glycine - therapeutic use
  • Heterozygote
  • Humans
  • In Vitro Techniques
  • Inborn Errors
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Medical disorders
  • Medical genetics
  • Medical sciences
  • Missense
  • Models
  • Models, Molecular
  • Molecular
  • Molecular and cellular biology
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • Newborn
  • Phosphorus imbalance
  • Preschool
  • Protein synthesis
  • Recombinant Proteins
  • Recombinant Proteins - genetics
  • Recombinant Proteins - metabolism
  • Sequence Homology
  • Sequence Homology, Amino Acid
  • Serine
  • Serine - biosynthesis
  • Serine - deficiency
  • Serine - therapeutic use
  • Synthesis
  • Transaminases
  • Transaminases - chemistry
  • Transaminases - deficiency
  • Transaminases - genetics
  • Transaminases - metabolism
ispartof: American journal of human genetics, 2007, Vol.80 (5), p.931-937
description: We present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. Clinically, the index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 mo despite supplementation with serine (500 mg/kg/d) and glycine (200 mg/kg/d) from age 11 wk. The younger sibling received treatment from birth, which led to a normal outcome at age 3 years. Measurement of phosphoserine aminotransferase activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene—one frameshift mutation (c.delG107) and one missense mutation (c.299A→C [p.Asp100Ala])—in both siblings. Expression studies of the p.Asp100Ala mutant protein revealed a V max of only 15% of that of the wild-type protein.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titlePhosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
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creatorHart, Claire E ; Race, Valerie ; Achouri, Younes ; Wiame, Elsa ; Sharrard, Mark ; Olpin, Simon E ; Watkinson, Jennifer ; Bonham, James R ; Jaeken, Jaak ; Matthijs, Gert ; Van Schaftingen, Emile
creatorcontribHart, Claire E ; Race, Valerie ; Achouri, Younes ; Wiame, Elsa ; Sharrard, Mark ; Olpin, Simon E ; Watkinson, Jennifer ; Bonham, James R ; Jaeken, Jaak ; Matthijs, Gert ; Van Schaftingen, Emile
descriptionWe present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. Clinically, the index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 mo despite supplementation with serine (500 mg/kg/d) and glycine (200 mg/kg/d) from age 11 wk. The younger sibling received treatment from birth, which led to a normal outcome at age 3 years. Measurement of phosphoserine aminotransferase activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene—one frameshift mutation (c.delG107) and one missense mutation (c.299A→C [p.Asp100Ala])—in both siblings. Expression studies of the p.Asp100Ala mutant protein revealed a V max of only 15% of that of the wild-type protein.
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0ISSN: 0002-9297
1EISSN: 1537-6605
2DOI: 10.1086/517888
3PMID: 17436247
4CODEN: AJHGAG
languageeng
publisherChicago, IL: Elsevier Inc
subjectAmino Acid ; Amino Acid Metabolism ; Amino Acid Metabolism, Inborn Errors - drug therapy ; Amino Acid Metabolism, Inborn Errors - genetics ; Amino Acid Metabolism, Inborn Errors - metabolism ; Amino Acid Metabolism, Inborn Errors - pathology ; Amino Acid Sequence ; Amino acids ; Article ; Base Sequence ; Biological and medical sciences ; Brain ; Brain - pathology ; Case studies ; Cells ; Child ; Child, Preschool ; DNA - genetics ; Female ; Frameshift Mutation ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Glycine ; Glycine - deficiency ; Glycine - therapeutic use ; Heterozygote ; Humans ; In Vitro Techniques ; Inborn Errors ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Medical disorders ; Medical genetics ; Medical sciences ; Missense ; Models ; Models, Molecular ; Molecular ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Newborn ; Phosphorus imbalance ; Preschool ; Protein synthesis ; Recombinant Proteins ; Recombinant Proteins - genetics ; Recombinant Proteins - metabolism ; Sequence Homology ; Sequence Homology, Amino Acid ; Serine ; Serine - biosynthesis ; Serine - deficiency ; Serine - therapeutic use ; Synthesis ; Transaminases ; Transaminases - chemistry ; Transaminases - deficiency ; Transaminases - genetics ; Transaminases - metabolism
ispartofAmerican journal of human genetics, 2007, Vol.80 (5), p.931-937
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02007 The American Society of Human Genetics
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32007 by The American Society of Human Genetics. All rights reserved. 2007
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0Hart, Claire E
1Race, Valerie
2Achouri, Younes
3Wiame, Elsa
4Sharrard, Mark
5Olpin, Simon E
6Watkinson, Jennifer
7Bonham, James R
8Jaeken, Jaak
9Matthijs, Gert
10Van Schaftingen, Emile
title
0Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
1American journal of human genetics
addtitleAm J Hum Genet
descriptionWe present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. Clinically, the index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 mo despite supplementation with serine (500 mg/kg/d) and glycine (200 mg/kg/d) from age 11 wk. The younger sibling received treatment from birth, which led to a normal outcome at age 3 years. Measurement of phosphoserine aminotransferase activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene—one frameshift mutation (c.delG107) and one missense mutation (c.299A→C [p.Asp100Ala])—in both siblings. Expression studies of the p.Asp100Ala mutant protein revealed a V max of only 15% of that of the wild-type protein.
subject
0Amino Acid
1Amino Acid Metabolism
2Amino Acid Metabolism, Inborn Errors - drug therapy
3Amino Acid Metabolism, Inborn Errors - genetics
4Amino Acid Metabolism, Inborn Errors - metabolism
5Amino Acid Metabolism, Inborn Errors - pathology
6Amino Acid Sequence
7Amino acids
8Article
9Base Sequence
10Biological and medical sciences
11Brain
12Brain - pathology
13Case studies
14Cells
15Child
16Child, Preschool
17DNA - genetics
18Female
19Frameshift Mutation
20Fundamental and applied biological sciences. Psychology
21General aspects. Genetic counseling
22Genetics
23Genetics of eukaryotes. Biological and molecular evolution
24Genetics(clinical)
25Glycine
26Glycine - deficiency
27Glycine - therapeutic use
28Heterozygote
29Humans
30In Vitro Techniques
31Inborn Errors
32Infant
33Infant, Newborn
34Magnetic Resonance Imaging
35Male
36Medical disorders
37Medical genetics
38Medical sciences
39Missense
40Models
41Models, Molecular
42Molecular
43Molecular and cellular biology
44Molecular Sequence Data
45Mutation
46Mutation, Missense
47Newborn
48Phosphorus imbalance
49Preschool
50Protein synthesis
51Recombinant Proteins
52Recombinant Proteins - genetics
53Recombinant Proteins - metabolism
54Sequence Homology
55Sequence Homology, Amino Acid
56Serine
57Serine - biosynthesis
58Serine - deficiency
59Serine - therapeutic use
60Synthesis
61Transaminases
62Transaminases - chemistry
63Transaminases - deficiency
64Transaminases - genetics
65Transaminases - metabolism
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2Achouri, Younes
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7Bonham, James R
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titlePhosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
authorHart, Claire E ; Race, Valerie ; Achouri, Younes ; Wiame, Elsa ; Sharrard, Mark ; Olpin, Simon E ; Watkinson, Jennifer ; Bonham, James R ; Jaeken, Jaak ; Matthijs, Gert ; Van Schaftingen, Emile
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0Amino Acid
1Amino Acid Metabolism
2Amino Acid Metabolism, Inborn Errors - drug therapy
3Amino Acid Metabolism, Inborn Errors - genetics
4Amino Acid Metabolism, Inborn Errors - metabolism
5Amino Acid Metabolism, Inborn Errors - pathology
6Amino Acid Sequence
7Amino acids
8Article
9Base Sequence
10Biological and medical sciences
11Brain
12Brain - pathology
13Case studies
14Cells
15Child
16Child, Preschool
17DNA - genetics
18Female
19Frameshift Mutation
20Fundamental and applied biological sciences. Psychology
21General aspects. Genetic counseling
22Genetics
23Genetics of eukaryotes. Biological and molecular evolution
24Genetics(clinical)
25Glycine
26Glycine - deficiency
27Glycine - therapeutic use
28Heterozygote
29Humans
30In Vitro Techniques
31Inborn Errors
32Infant
33Infant, Newborn
34Magnetic Resonance Imaging
35Male
36Medical disorders
37Medical genetics
38Medical sciences
39Missense
40Models
41Models, Molecular
42Molecular
43Molecular and cellular biology
44Molecular Sequence Data
45Mutation
46Mutation, Missense
47Newborn
48Phosphorus imbalance
49Preschool
50Protein synthesis
51Recombinant Proteins
52Recombinant Proteins - genetics
53Recombinant Proteins - metabolism
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55Sequence Homology, Amino Acid
56Serine
57Serine - biosynthesis
58Serine - deficiency
59Serine - therapeutic use
60Synthesis
61Transaminases
62Transaminases - chemistry
63Transaminases - deficiency
64Transaminases - genetics
65Transaminases - metabolism
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2Achouri, Younes
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7Bonham, James R
8Jaeken, Jaak
9Matthijs, Gert
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abstractWe present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. Clinically, the index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 mo despite supplementation with serine (500 mg/kg/d) and glycine (200 mg/kg/d) from age 11 wk. The younger sibling received treatment from birth, which led to a normal outcome at age 3 years. Measurement of phosphoserine aminotransferase activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene—one frameshift mutation (c.delG107) and one missense mutation (c.299A→C [p.Asp100Ala])—in both siblings. Expression studies of the p.Asp100Ala mutant protein revealed a V max of only 15% of that of the wild-type protein.
copChicago, IL
pubElsevier Inc
pmid17436247
doi10.1086/517888
oafree_for_read