Description:
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Asian, Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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CHINESE
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Family History
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N
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Relation to Proband
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SLC25A13 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
603859.0003; CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| Identified Mutation |
c.1638_1660dup23 |
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| Gene |
SLC25A13 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 2 |
; CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| Identified Mutation |
c.615+5g>a |
| Remarks |
Subject is clinically affected; diagnosed at newborn screening with first symptoms at 29 months; history of past hyperammoneic events; cholestasis; developmentally on target: walks, runs, climbs, plays with a ball, scribbles, colors, speaks 50-100 words in 2 languages (Mandarin-Chinese and Fuju); citrulline levels 483 umol/L in blood, mutations in the SLC25A13 gene: 1638_1660dup23 (p.A554G1sX16) and 615+5G>A; neurological evaluation at age 3 showed tone changes; tolerates high-protein, low-carbohydrate diet (ElaCare formula). |
| Pang AWC, Kosco K, Sahajpal NS, Sridhar A, Hauenstein J, Clifford B, Estabrook J, Chitsazan AD, Sahoo T, Iqbal A, Kolhe R, Raca G, Hastie AR, Chaubey A, Analytic Validation of Optical Genome Mapping in Hematological Malignancies Biomedicines11: 2023 |
| PubMed ID: 38137484 |
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