Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino...

acids (BCAA) metabolism, they are among the classical organic acidemias. Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses...

amino acid leucine. It is a classical type of organic acidemia. A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This...

autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with poor feeding...

methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic...

Nephroblastomatosis-fetal ascites-macrosomia-wilms tumor Nesidioblastosis Organic acidemia Pazopanib Pentamidine Perazine Phosphoenolpyruvate carboxykinase (PEPCK)...

defect Menkes disease Congenital disorders of amino acid metabolism Organic acidemia Syndromes Contiguous gene deletion 17p13.3 deletion (Miller–Dieker...

that a person has an inborn error of metabolism, usually one of the organic acidemias. It is also used to look for problems with nutrition or evidence of...

of organic acidemias using a thin layer chromatography method. Newborn screening using tandem mass spectrometry can detect several organic acidemias, including...

acid analysis, urine organic acid analysis (to identify the presence or absence of orotic acid, as well as rule out an organic acidemia) and plasma acylcarnitines...

Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and...

acids. Metabolic acidosis can lead to acidemia, which is defined as arterial blood pH that is lower than 7.35. Acidemia and acidosis are not mutually exclusive...

now become established in medical databases for ACSF3 deficiency. Organic acidemia MacPhee, G. B.; Logan, R. W.; Mitchell, J. S.; Howells, D. W.; Tsotsis...

from SMA impair β-oxidation of fatty acids in muscles and can lead to organic acidemia and consequent muscle damage, especially when fasting. It is suggested...

deficiency belongs to a more general class of disorders known as organic acidemias, in which the dysfunction of a specific step of amino acid catabolism...

clinical findings include: Juvenile Huntington's disease Leigh syndrome Organic acidemia Sepiapterin reductase deficiency Sydenham's chorea Tyrosine hydroxylase...

aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic acidemia Lower levels of serum valine, like other branched-chain amino...

metabolism. It increases hydrogen ion concentration tending to the state of acidemia or low pH. The result can be detected with high levels of lactate and low...

astrocytic vulnerability in propionic acidemia when intramitochondrial propionyl-CoA may accumulate. Propionic acidemia may alter both neuronal and glial...

deficiency. Other diseases that may appear similar to CTLN1 include the organic acidemias and citrullinemia type II. To diagnose CTLN1, a blood test for citrulline...

elevated glycine levels. For example, certain inherited 'organic acidurias' (aka 'organic acidemias') can produce elevated glycine in plasma and urine, although...

D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in...

Combined malonic and methylmalonic aciduria (CMAMMA) Methylmalonic acidemia Propionic acidemia Effects of threonine dietary supplementation have been researched...

Nitrocyclohexane, a nitro compound Pipecolic acid, a small organic molecule which accumulates in pipecolic acidemia Vigabatrin, an antiepileptic drug This set index...

environmental analysis. Many of the IEMs that are classified as "organic acidemia", in which organic acids accumulate in the urine of newborns with these disorders...

within 24–36 hours of birth and urea cycle defects can be excluded. Organic acidemias and other metabolic errors must also be excluded. The diagnostic criteria...

with hyperammonemia (genetics unknown) Methylmalonic acidemia Isovaleric acidemia Propionic acidemia Carnitine palmitoyltransferase II deficiency Transient...

aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic acidemia Isoleucine, like other branched-chain amino acids, is associated...

methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia The industrial synthesis combines acrolein, methanethiol, and...

hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias". Molecular Genetics and Metabolism. 109 (4): 354–9. doi:10.1016/j...