A few other metabolic disorders, such as organic aciduria
, cortical basal ganglionic degeneration, and early-onset levodopa-responsive parkinsonism, also show hyperintense signals within the basal ganglia.
Keywords: Gas chromatography-Mass spectrometry, Inherited metabolic disorders, Organic aciduria
Gerlo, "Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria
," Journal of Pediatrics, vol.
Among intoxication-type IMDs, DM develops due to iron overload in hemochromatosis (10) and in aceruloplasminemia (11), which may arise from ketoacidosis-induced pancreatitis in organic aciduria
Fumaric aciduria: a new organic aciduria
, associated with mental retardation and speech impairment.
The accumulation of an organic acid in cells and fluids (plasma, cerebrospinal fluid, or urine) leads to a disease called organic acidemia, or organic aciduria
Barth syndrome (X linked cardiac and skeletal myopathy, neutropenia, and organic aciduria
): rarely recognised, frequently fatal.
Some reports of organic aciduria
in SMA may have been caused by inadequate nutrition.
Tandem Mass Spectroscopy (screening test of metabolic disorder) for urea cycle defect, organic aciduria
, fatty acid oxidation disorder, amino acid disorder was also normal.
The observation of lower amounts of 2-ketoglutarate and glutamic acid in the D-2-HGA cell culture media is a starting point for the continuing research to this rare organic aciduria
Analysis of organic acids is a powerful technique in the diagnosis of inborn errors of metabolism characterized by organic aciduria
, either by the excretion of excessive amounts of urinary organic acids ordinarily expressed or by the presence of organic acids rarely present in urine.
It's a difference from other forms of organic acidurias