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To investigate body composition a cohort of mutant and wild-type 129X1 mice entered the metabolic screen at 30 to 32 weeks of age.
At the age of 17 to 19-weeks wild-type and heterozygous Dll1tm1Gos mutants entered the metabolic screen in the GMC, and were analyzed as described previously [79] [81].
Extensive metabolic screen and karyotype test results appeared normal.
Tandem mass spectrometry (MS) for metabolic screen was unremarkable; TORCH for congenital infections was negative.
Liver function tests (LFT), metabolic screen, TORCH panel for congenital infections were all normal.
Author 9 (JS) was responsible for the phenotypic documentation, the metabolic screen and the cryoconservation of mutants.
Similar(51)
Most metabolic screening tests do not detect disorders of purine or pyrimidine metabolism; hence, they must be specifically sought out by having specialized analyses performed.
Patients often have biochemical markers of underlying disease (for example, an elevated blood lactate level or unusual organic acids in the urine), but some patients have completely normal metabolic screens.
Objective To examine the impact of early discharge on newborn metabolic screening.
For example, many countries have decades of stored "Guthrie cards" with newborn blood samples provided for metabolic screening.
Despite extensive metabolic screening, the diagnosis remained elusive (normal values for newborn screening, ammonium, serum acylcarnitines/carnitine, urine amino acids, urine organic acids, very long chain fatty acids (VLCFA), homocystein, purines/pyrimidines in urine; plasma amino acids: elevated alanine secondary to lactic acidosis [1054 μmol/l, normal <710 μmol/l]).
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