Glutaric acidemia, type

Butyrylglycine C4 Butyryl- CoA (FAO) SCAD deficiency Glutaric acidemia type II... 

Isobutyrylglycine C4 VAL Isobutyryl-CoA dehydrogenase deficiency Glutaric acidemia type II Ethylmalonic encephalopathy... 

Fig. 3.2.2 Profiles of acylcarnitines as their butyl esters in plasma (precursor of m/z 85 scan) of a normal control (a), a patient with glutaric acidemia type I and low carnitine levels (b), and a patient with glutaric acidemia type I and normal carnitine status (c). Peak 1 free carnitine (m/z 218), peak 2 acetylcarnitine (C2 m/z 260), peak 3 glutarylcarnitine (C5-DC m/z 388). The asterisks represent the internal standards (from left to right) d3-acetylcarnitine (C2 m/z 263), d3-propionylcarnitine (C3 m/z 277), d3-butyrylcarnitine (C4 m/z 291), d3-octanoylcarnitine (C8 m/z 347), d3-dodecanoylcarnitine (Ci2 m/z 403), and d3-palmitoylcarnitine (Ci6 m/z 459)...

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D (2005) The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab 84 137-143... 

Glutaric acidemia type. II. v . 231680 130410 231675 Electron transfer fiavoprotein (ETF), ETF ubiquinone oxidoreductase <1 100,000. . Cardiomyopathy, liver -disease, congenital anomalies. Adult onset myopathy. 00 000000 ... 

EMA aciduria maybe associated with several other inherited and acquired conditions, including (1) glutaric acidemia type II (some cases are actually labeled to have ethylmalonic adipic aciduria),(2) disorders of the intramitochon-drial flavin adenine dinucleotide pathway, (3) mitochondrial respiratory chain disorders, and (4) ethylmalonic encephalopathy. Jamaican vomiting sickness (due to ingestion of unripe ackee fruit containing the poison hypoglycin A) and ifosfamide treatment represent two additional causes of ethylmalonic aciduria. 

Frerman FE, Goodman SI. Defects of the electron transfer flavoprotein and electron transfer flavopro-tein-ubiquinone oxidoreductase glutaric acidemia type II. In Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, et al, eds. The metabofic molecular bases of inherited disease, 8th ed. New York McGraw-Hill, 2001 2357-65. 

Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, et al. Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 2002 11 347-57. 

Glutaric acidemia type II is caused by defects in the ETF/ETF-QO proteins. The clinical manifestations of these disorders are similar to medium-chain acyl-CoA dehydrogenase deficiency (discussed later). The double bond formed by the acyl-CoA dehydrogenase has a trans configuration. The double bonds in naturally occurring fatty acids are generally in the cis configuration. The oxidation of unsaturated m-fatty acids requires two auxiliary enzymes, enoyl-CoA isomerase and 2,4-dienoyl-CoA reductase. 

Isovaleric acidemia Glutaric acidemia type II 3-Hydroxy-3-methylglutaric aciduria... 

They are defects in the degradation pathways of leucine, isoleucine, and valine. These conditions are usually diagnosed by examining organic acids in urine with abnormal metabolites also notable on acylcamitine profile. Organic acidemias comprise a variety of disorders and include methylmalonic acidemia (MMA), propionic acidemia (PROP), isovaleric acidemia (IVA), glutaric acidemia type 1 (GA-1), 3-methylcrotonyl carboxylase deficiency (3-MCC), 3-methylglutaconic acidemia (3-MGA), and vitamin B12 uptake, transport, and synthesis defects. 

Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by a deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid [1],... 

Glutaric acidemia type 1 (also referred to as glutaric aciduria type 1) is a cerebral organic aciduria involved in lysine and tryptophan metabolism. Glutaric acidemia type 1 (GA-1) is characterized by a complex movement disorder, which is the result of an injury to the basal ganglia (striatal necrosis). Striatal damage typically... 

Hedlund GL, Longo N, Pasqueili M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 142C(2) 86-94. 

Greenberg CR, et aL Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Memitoba and northwestern Ontario. Can Mol Genet Metab. 2002 75(l) 70-8. 

Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr. 2000 137(5) 681-6. 

Smith WE, et al. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics. 2001 107(5) 1184-7. 

Moore T, Le A, Cowan TM. An improved LC-MS/ MS method for the detection of classic and low excretor glutaric acidemia type 1. J Inherit Metab Dis. 

Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. 

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