Description:
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of Amino Acid Metabolism |
Cell Type
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Fibroblast
|
Transformant
|
Untransformed
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Race
|
White
|
Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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|
Passage Frozen |
7 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Infantile myoclonic encephalopathy; hypotonia; 46,XY |
Zuhra K, Petrosino M, Janickova L, Petric J, Ascenção K, Vignane T, Khalaf M, Philipp TM, Ravani S, Anand A, Martins V, Santos S, Erdemir S, Malkondu S, Sitek B, Kelestemur T, Kieronska-Rudek A, Majtan T, Filgueira L, Maric D, Chlopicki S, Hoogewijs D, Haskó G, Papapetropoulos A, Logue BA, Boss GR, Filipovic MR, Szabo C, Regulation of mammalian cellular metabolism by endogenous cyanide production Nature metabolism7:531-555 2025 |
PubMed ID: 40033006 |
Gene Cards |
AMT |
|
GLDC |
Gene Ontology |
GO:0004047 aminomethyltransferase activity |
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GO:0004375 glycine dehydrogenase (decarboxylating) activity |
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GO:0005489 electron transporter activity |
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GO:0005739 mitochondrion |
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GO:0005960 glycine cleavage complex |
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GO:0005961 glycine dehydrogenase complex (decarboxylating) |
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GO:0006546 glycine catabolism |
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GO:0008483 transaminase activity |
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GO:0016491 oxidoreductase activity |
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GO:0016740 transferase activity |
NCBI Gene |
Gene ID:2731 |
|
Gene ID:275 |
NCBI GTR |
238300 GLYCINE DECARBOXYLASE; GLDC |
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238310 AMINOMETHYLTRANSFERASE; AMT |
OMIM |
238300 GLYCINE DECARBOXYLASE; GLDC |
|
238310 AMINOMETHYLTRANSFERASE; AMT |
Omim Description |
GLYCINE DECARBOXYLASE, INCLUDED; GLDC, INCLUDED |
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GLYCINE DEHYDROGENASE, INCLUDED |
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HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I |
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NKH1GLYCINE CLEAVAGE SYSTEM P PROTEIN, INCLUDED; GCSP, INCLUDED |
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AMINOMETHYLTRANSFERASE, INCLUDED; AMT, INCLUDED |
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HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II |
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NKH2GLYCINE CLEAVAGE SYSTEM T PROTEIN, INCLUDED; GCST, INCLUDED |
Passage Frozen |
7 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|