Glutaric aciduria

Glutaric acidurias Type I Primary defect of glutarate oxidation Type II Defect of electron transfer flavoprotein Type I Severe basal ganglia/cerebellar disease with macrocephaly. Onset 1-2 years Type II Fulminant neurological syndrome of the neonate. Often with renal/hepatic cysts. Usually fatal Diet low in lysine and tryptophan Supplementation with coenzyme Q, riboflavin, carnitine... 

Glutaric aciduria type II, which is a defect of P-oxida-tion, may affect muscle exclusively or in conjunction with other tissues. Glutaric aciduria type II, also termed multiple acyl-CoA dehydrogenase deficiency (Fig. 42-2), usually causes respiratory distress, hypoglycemia, hyperammonemia, systemic carnitine deficiency, nonketotic metabolic acidosis in the neonatal period and death within the first week. A few patients with onset in childhood or adult life showed lipid-storage myopathy, with weakness or premature fatigue [4]. Short-chain acyl-CoA deficiency (Fig. 42-2) was described in one woman with proximal limb weakness and exercise intolerance. Muscle biopsy showed marked accumulation of lipid droplets. Although... 

Fig. 31. Twenty-year-old woman with glutaric aciduria type I. (a) The Ti weighted image shows normal findings for the cross-section of the lower limb. The volume element for spectroscopy was chosen in the soleus muscle, (b) The 7-fold magnification depicts a reduction of TMA. Although no fatty degeneration is visible on the image, the spectrum is dominated by EMCL.

Keto glutaric aciduria 2-Keto glutaric dehydrogenase... 

Hydroxy 3-methyl glutaric aciduria 3-Hydroxy 3-methyl glutaryl-CoA lyase... 

L-2-Hydroxy glutaric aciduria L-2-Hydroxy dehydrogenase (Duranin)... 

Christensen E, Kolvraa S, and Gregersen N (1984) Glutaric aciduria type II evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. Pediatric Research 18, 663-7. 

Table 41.8 Glutaric Aciduria Type i and dietary preparations used in treatment... 

The XLYS, LOW TRY Glutaridon preparation is suitable for infants, children, adolescents and adults with glutaric aciduria type I but, unlike other proprietary preparations suitable for the management of glutaric aciduria... 

Bennett, M.J., Pollitt, R.J., Goodman, S.I., Hale, D.E. Vamecq, J. (1991)7. Inherit. Metab. Dis. 14, 165-73. Atypical riboflavin-responsive glutaric aciduria, and deflcient peroxisomal glutaryl-CoA oxidase activity a new peroxisomal disorder. 

Shimizu, N., Yamaguchi, S, Orii, T, Prcvis , SF. Rinaldo, P. (1991) Mass Spectr. 20, 479-483. Mass spectrometiic analysis of metabolite exeretioi in five Japanese patients with the late-msd form of glutaric aciduria type n. 

Matsumoto, M., Matsumoto, I., Shinka, T., Kuhara, T., Imamura, H. Shimao, S. 99d) Acta Paed. Japonica 32, 76-82. Organic acid and acyl-camitine profiles of glutaric aciduria type I. 

Glutaric aciduria, type 2 (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD)... 

Strauss KA, et al. Type I glutaric aciduria, part 1 natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003 121C(l) 38-52. 

Sonmez G, et al. Magnetic resonance imaging findings of adult-onset glutaric aciduria type I. Acta Radiol. 2007 48(5) 557-9. 

Biotinidase deficiency Folinic acid-responsive seizures Glutaric aciduria type 1 Homocystinuria HyperphenyManinemia due to disorders of biopterin Methylmalonic aciduria Maple syrup urine disease (MSUD) Multiple carboxylase deficiency OAT... 

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... 

Glutaric aciduria type III (glutaryl-CoA oxidase deficiency)... 

Pusti S, et al. A treatable neurometabolic disorder glutaric aciduria type 1. Case Rep Pediatr. 2014 2014 256356. 

Naughten ER, et al. Glutaric aciduria type I outcome in the Republic of Ireland. J Inherit Metab Dis. 2004 27(6) 917-20. 

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