Tags

Type your tag names separated by a space and hit enter

[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
No To Hattatsu. 2000 Mar; 32(2):163-8.NT

Abstract

We reported a male infant with multiple acyl CoA dehydrogenase deficiency, probably due to electron transfer flavoprotein dehydrogenase deficiency. He was noted to have severe muscle weakness, a high serum creatine kinase (CK) level up to 6920 IU/L, lipid storage myopathy and fatty liver at 6 months of age. A GC/MS analysis of urinary organic acids showed excess excretion of dicarboxylic acids, including glutaric, 2-hydroxyglutaric, adipic, suberic, sebacic, malonic, ethylmalonic and methylsuccinic acids. On a urinary acylglycine analysis, hexanoylglycine and suberylglycine were increased, but not isovalerylglycine, in amount. No ketosis was noted. The muscle pathology showed increased oil-red O positive lipid droplets of various sizes indicative of lipid storage myopathy. There was diffuse decrease in the activity of cytochrome c oxidase. No ragged-red fibers were noted. His clinical symptoms improved remarkably after the administration of riboflavin (100 mg/day) and L-carnitine (1000 mg/day). He was then diagnosed as having probable riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. The glutaryl CoA dehydrogenase activity in lymphocytes was normal, as were the alpha- and beta-subunits of electron transfer flavoprotein. These findings led us to suspect electron transfer flavoprotein dehydrogenation deficiency. Although he had several episodes of short-term deterioration in clinical and laboratory findings, he developed normally with normal intelligent till 10 years of age.

Authors+Show Affiliations

Department of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Handicapped Children.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

10723193

Citation

Tojo, M, et al. "[A Case of Riboflavin-responsive Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II)]." No to Hattatsu = Brain and Development, vol. 32, no. 2, 2000, pp. 163-8.
Tojo M, Gunji T, Yamaguchi S, et al. [A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. No To Hattatsu. 2000;32(2):163-8.
Tojo, M., Gunji, T., Yamaguchi, S., Shimizu, N., Koga, Y., & Nonaka, I. (2000). [A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. No to Hattatsu = Brain and Development, 32(2), 163-8.
Tojo M, et al. [A Case of Riboflavin-responsive Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II)]. No To Hattatsu. 2000;32(2):163-8. PubMed PMID: 10723193.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. AU - Tojo,M, AU - Gunji,T, AU - Yamaguchi,S, AU - Shimizu,N, AU - Koga,Y, AU - Nonaka,I, PY - 2000/3/21/pubmed PY - 2000/5/20/medline PY - 2000/3/21/entrez SP - 163 EP - 8 JF - No to hattatsu = Brain and development JO - No To Hattatsu VL - 32 IS - 2 N2 - We reported a male infant with multiple acyl CoA dehydrogenase deficiency, probably due to electron transfer flavoprotein dehydrogenase deficiency. He was noted to have severe muscle weakness, a high serum creatine kinase (CK) level up to 6920 IU/L, lipid storage myopathy and fatty liver at 6 months of age. A GC/MS analysis of urinary organic acids showed excess excretion of dicarboxylic acids, including glutaric, 2-hydroxyglutaric, adipic, suberic, sebacic, malonic, ethylmalonic and methylsuccinic acids. On a urinary acylglycine analysis, hexanoylglycine and suberylglycine were increased, but not isovalerylglycine, in amount. No ketosis was noted. The muscle pathology showed increased oil-red O positive lipid droplets of various sizes indicative of lipid storage myopathy. There was diffuse decrease in the activity of cytochrome c oxidase. No ragged-red fibers were noted. His clinical symptoms improved remarkably after the administration of riboflavin (100 mg/day) and L-carnitine (1000 mg/day). He was then diagnosed as having probable riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. The glutaryl CoA dehydrogenase activity in lymphocytes was normal, as were the alpha- and beta-subunits of electron transfer flavoprotein. These findings led us to suspect electron transfer flavoprotein dehydrogenation deficiency. Although he had several episodes of short-term deterioration in clinical and laboratory findings, he developed normally with normal intelligent till 10 years of age. SN - 0029-0831 UR - https://www.unboundmedicine.com/medline/citation/10723193/[A_case_of_riboflavin_responsive_multiple_acyl_CoA_dehydrogenase_deficiency__glutaric_aciduria_type_II_]_ L2 - http://www.medicalonline.jp/meteo_linkout.php?issn=0029-0831&volume=32&issue=2&spage=163 DB - PRIME DP - Unbound Medicine ER -