Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Amaç & Hipotez:Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolitesglutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain.

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Temel Bulgular & Veri:Here we presented a 3-year-old girl with hypotonia and dystonia diagnosedwith GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal.

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Sonuç & Katkı:It is important to evaluate the cases for genetic investigation.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolitesglutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosedwith GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weightstandard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia.Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developedon her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH geneanalysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl andlysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organicacid analyses may not be consistent. It is important to evaluate the cases for genetic investigation.

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Bu Makaleye Atıf Yap

CANDA, E., YAZICI, H., ER, E., ERASLAN, C., ALTINOK, Y. A., SERİN, H. M., HABİF, S., SERDAROĞLU, G., UÇAR, S. K., ONAY, H., ÖZKINAY, F. F., ÇOKER, M. (2018). Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 60–62. https://ajindex.com/articles/363010

Kaynakça (9)

Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a “new” disorder of amino acid metabolism. Koeller DM, DiGiulio KA, Angeloni SV, et al. Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Genomics 1995;28:508- 12. Kölker S, Garbade SF, Greenberg CR, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006;59:840-7.
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;137:681-6.
Kölker S, Christensen E, Leonard JV, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007;30:5-22.
Külkens S, Harting I, Sauer S, et al. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 2005;64:2142-4.
Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999;22:867-81.
Boy N, Mühlhausen C, Maier EM, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40:75-101.
Kölker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011;34:677-94. Lee WT. Disorders of amino acid metabolism associated with epilepsy. Brain Dev 2011;33:745-52.
Pineda M, Ribes A, Busquets C, Vilaseca MA, Aracil A, Christensen E. Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity. Dev Med Child Neurol 1998;40:840-2.
Couce ML, López-Suárez O, Bóveda MD, et al. Glutaric aciduria type I: outcome of patients with early- versus latediagnosis. Eur J Paediatr Neurol 2013;17:383-9.