Individual #00218048

ID_report 16466958-Pat2
Reference PubMed: Basinger 2006
Remarks This Patient is the sister of 16466958-Pat1 (LOVD Indiv ID: 00218047);
Diagnosed by newborn screening
Gender F
Consanguinity no
Country United States
Population Native American (Lumbee)
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases GA1
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-17 13:49:26 +01:00 (CET)
Date last edited N/A


Phenotypes

glutaricaciduria, type 1 (GA-1) (GA1)   Add phenotype for this disease

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Owner     
0000166497 - - Familial, autosomal recessive 03y - 00y00m15d - Acute metabolic decompensation at age 10m; Outcome: Ambulatory, feeds by mouth and G-tube (HP:0011471), verbal communication; MRI(after acute decompensation): subdural hematoma, temporal lobe atrophy, widened Sylvian fissures, elevated signal intensity in basal ganglia; MRI(follow-up): volume loss in basal ganglia; MRI(follow-up): volume loss in basal ganglia - GA(urine): strongly elevated; 3-OH-GA(urine): elevated; glutarylcarnitine(NBS): 1.95µM - Isabelle Rinke



Screenings


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Owner     
0000219119 DNA SEQ blood - GCDH 1 Isabelle Rinke



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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AscendingDNA change (genomic) (hg19)     

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Protein level     
19 Both (homozygous) +/+ - pathogenic (recessive) g.13008674G>A g.12897860G>A - - GCDH_000013 - PubMed: Basinger 2006 - - Germline/De novo (untested) - - - - - Isabelle Rinke GCDH - - - - 11 NM_000159.3:c.1240G>A - r.(?) p.(Glu414Lys) - - - - - - - - - - - - - -
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