… coli [1,2], and the enzymic activity that acetylates L-glutamate using acetyl-CoA (AcCoA) was
found in … that a derivative of L-glutamic acid is required for the biosynthesis of L-citrulline in …

… /L and 40–120 U/L were considered mildly elevated in females and males, respectively.
Plasma ALT activities of 105–175 U/L and 120–200 U/L … and 200 U/L were considered severely …

… The mainstays of treatment of the acute phase are rapid lowering of the plasma ammonia
level to ≤200 μmol/L (if necessary, with renal replacement therapy); use of ammonia …

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary
leukoencephalopathy that was originally identified by MRI pattern analysis, and it has …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Purpose Compared to the microbiome of other body sites, the urinary microbiome remains
poorly understood. Although noninvasive voided urine specimens are convenient, …

… The diagnosis of propionic acidemia was established by urine organic acid analysis and
therapy was instituted with a special formula, l-carnitine and biotin. The addition of sodium-…

Purpose : We used the PathoScope platform to perform species level analyses of publicly
available, 16S rRNA pyrosequenced, asymptomatic urine data to determine relationships …

Deleterious mutations in the X-linked gene encoding ornithine transcarbamylase (OTC)
cause the most common urea cycle disorder, OTC deficiency. This rare but highly actionable …

… This implies that either NAGS in the vertebrate group uses different residues for l-glutamate
binding or that the l-glutamate binding site is in a different location. The possibility for a …