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1.C5DCU - Overview: C5-DC Acylcarnitine, Quantitative, Random, Urine
Elevated glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia ...
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2.[PDF] Elevated C5-DC Acylcarnitine Family Fact Sheet
High levels of C5-DC acylcarnitine can indicate that your child has glutaric acidemia type I (GA-I). A positive result does not mean your baby has GA-I, ...
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3.False-positive Newborn Screening Mimicking Glutaric Aciduria Type I ...
23 thg 12, 2009 · C5DC was shown to be significantly associated with renal affection and was significantly higher in infants with congenital renal ...
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4.Renal Insufficiency Mimicking Glutaric Acidemia Type 1 On Newborn ...
C5DC decreased immediately in four patients, but one patient, who had high C5DC for at least 4 months, was diagnosed with bilateral renal hypoplasia.
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5.Detection Of Glutaric Acidemia Type 1 In Infants Through Tandem Mass ...
The routine newborn screening is done using dried blood samples by tandem mass spectrometry. The primary analyte elevated in GA1 is glutaryl carnitine (C5DC) ...
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6.[PDF] When Baby Needs A Second Test For An Organic Acid Disorder
Because a compound called C5DC (glutaryl carnitine) was high in your baby's first test, ... If your baby's newborn screening result showed high C5DC levels, ...
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7.[PDF] Suggested Follow-up For Elevated C5DC+C6OH: Glutaryl Carnitine
Elevated C5DC+C6OH is the primary marker for glutaric aciduria type. I (GA I). It is a disorder of tryptophan (TRP), lysine (LYS) and hydoxylysine ...
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8.Biochemical And Molecular Features Of Chinese Patients With Glutaric ...
3 thg 8, 2021 · Neonatal GA1 patients with increased C5DC levels can be identified ... GA1 patients are divided into low (LE) and high excretors (HE), ...
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9.[PDF] Newborn Screening ACT Sheet Elevated C5-DC Acylcarnitine ...
Elevated C5-DC Acylcarnitine. Glutaryl-CoA Dehydrogenase Deficiency ... high levels of acids in the blood. • seizures. • brain swelling, or blood in the ...
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10.Prenatal Diagnosis Of Glutaric Acidemia I Based On Amniotic Fluid ...
21 thg 4, 2020 · Seven fetuses showing higher levels of C5DC, C5DC/C8, and glutaric acid (Table 2) compared to those in controls were judged as “affected,” ...
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11.Diagnosis Of Glutaric Acidemia Type I: A Cautionary Note
1 thg 3, 2005 · in populations with a high incidence of GA- ... C5DC, glutarylcarnitine derivatized conjugate; C3, propionylcarnitine; C16, ...
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12.[PDF] Glutaric Aciduria Type I Missed By Newborn Screening - MDPI
are the high excretors, where marker metabolites in urine are always elevated, with urinary ... based on elevated levels of glutaryl-carnitine (C5DC) in.
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13.Glutaric Aciduria Type I - National Organization For Rare Disorders
Two arbitrary biochemical subtypes have been defined, high (HE) and low ... 3-OH-GA, glutaconic acid and glutarylcarnitine (C5DC) can be detected in body ...
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14.The Low Excretor Phenotype Of Glutaric Acidemia Type I Is A Source Of ...
5 thg 4, 2021 · Some patients are classified as high excretors (HEs), ... Urinary excretion of C5DC is a specific biochemical marker that is elevated in ...
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