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Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Pediatr Neurol. 1995 Nov; 13(4):333-5.PN

Abstract

The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development until the age of 3 years, who then developed progressive intention tremors, dysarthria, ataxia, and spastic tetraparesis. Episodes of acute metabolic distress were never observed. Magnetic resonance imaging disclosed abnormal signals within the white matter of the brain and cerebellum, suggesting leukodystrophy. Gas chromatography/mass spectrometry analysis revealed abnormally high levels of glutaric acid, dicarboxylic acids, and glycine derivatives in urine. Riboflavin therapy was initiated at 4 years of age, when the patient had already lost control of trunk and head posture. Consistent improvement rapidly occurred after riboflavin supplementation. Glutaric aciduria type II may cause brain damage, in spite of the absence of acute metabolic distress, and should be considered in the differential diagnosis of leukodystrophies.

Authors+Show Affiliations

Department of Child Neurology, Istituto Neurologico C. Besta, Milan, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8771170

Citation

Uziel, G, et al. "Riboflavin-responsive Glutaric Aciduria Type II Presenting as a Leukodystrophy." Pediatric Neurology, vol. 13, no. 4, 1995, pp. 333-5.
Uziel G, Garavaglia B, Ciceri E, et al. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol. 1995;13(4):333-5.
Uziel, G., Garavaglia, B., Ciceri, E., Moroni, I., & Rimoldi, M. (1995). Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatric Neurology, 13(4), 333-5.
Uziel G, et al. Riboflavin-responsive Glutaric Aciduria Type II Presenting as a Leukodystrophy. Pediatr Neurol. 1995;13(4):333-5. PubMed PMID: 8771170.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. AU - Uziel,G, AU - Garavaglia,B, AU - Ciceri,E, AU - Moroni,I, AU - Rimoldi,M, PY - 1995/11/1/pubmed PY - 1995/11/1/medline PY - 1995/11/1/entrez SP - 333 EP - 5 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 13 IS - 4 N2 - The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development until the age of 3 years, who then developed progressive intention tremors, dysarthria, ataxia, and spastic tetraparesis. Episodes of acute metabolic distress were never observed. Magnetic resonance imaging disclosed abnormal signals within the white matter of the brain and cerebellum, suggesting leukodystrophy. Gas chromatography/mass spectrometry analysis revealed abnormally high levels of glutaric acid, dicarboxylic acids, and glycine derivatives in urine. Riboflavin therapy was initiated at 4 years of age, when the patient had already lost control of trunk and head posture. Consistent improvement rapidly occurred after riboflavin supplementation. Glutaric aciduria type II may cause brain damage, in spite of the absence of acute metabolic distress, and should be considered in the differential diagnosis of leukodystrophies. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/8771170/Riboflavin_responsive_glutaric_aciduria_type_II_presenting_as_a_leukodystrophy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0887899495001875 DB - PRIME DP - Unbound Medicine ER -