Glutaric aciduria Type

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.

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... 

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)... 

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. 

KOlker S, et al. Diagnosis and management of glutaric aciduria type I-revised recommendations. 1 Inherit Metab Dis. 2011 34(3) 677-94. 

Kyllerman M, et al. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur 1 Paediatr Neurol. 2004 8(3) 121-9. 

Cerisola A, et al. Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. Pediatr Neurol. 2009 40(6) 426-31. 

Gitiaux C, et al. Spectrum of movement disorders associated with glutaric aciduria type 1 a study of 16 patients. Mov Disord. 2008 23(16) 2392-7. 

Halting I, et al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type 1. Brain. 2009 132(Pt 7) 1764-82. 

Koliser S, et al. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab. 2012 107(l-2) 72-80. 

Hennermann JB, et al. False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency. J Inherit Metab Dis. 2009 32 Suppl l S355-9. 

Miihlhausen C, et al. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity a novel mutation in a Turkish patient with glutaric aciduria type I. J Inherit Metab Dis. 2003 26(7) 713. ... 

Boy N, et al. Low lysine diet in glutaric aciduria type I-effect on anthropometric and biochemical foUow-up parameters. J Inherit Metab Dis. 2013 36(3) 525-33. 

One particular case of such pathological conditions is multiple acyl-CoA dehydrogenation deficiency (MADD) or glutaric aciduria type-II, a rare disease arising from defects in either ETF or ETF QO. In this condition, vitamin B2 supplementation has in some cases been successfully employed for the treatment of this fatty add oxidation (FAO) disorder. However, the molecular rational for the benefidal eflect of riboflavin supplementation is not fully clearly defined and the reason why only some MADD patients are responsive to riboflavin whereas others are not remains as one of the key challenging issues in the field (Gregersen et al. 1990 Olsen et al. 2007). 

Amendt, B.A., and Rhead, W.J., 1986. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. Journal of Clinical Investigation. 78 205-213. 

Gregersen, N., Rhead, W., and Christensen, E., 1990. Riboflavin responsive glutaric aciduria type II. Progress in Clinical and Biological Research. 321 477-494. 

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