Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

Päivi Vieira; Päivi Myllynen; Marja Perhomaa; Hannu Tuominen; Riikka Keski-Filppula; Seppo Rytky; Leila Risteli; Johanna Uusimaa

doi:10.1055/s-0037-1601447

Neuropediatrics, Table of Contents

Neuropediatrics 2017; 48(03): 194-198
DOI: 10.1055/s-0037-1601447

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

Päivi Vieira

¹PEDEGO Research Unit, Department of Children and Adolescents, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland

,

Päivi Myllynen^*

²PEDEGO Research Unit, Department of Clinical Genetics, Northern Finland Laboratory Centre (NordLab), Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland

,

Marja Perhomaa^*

³Department of Diagnostic Radiology, Oulu University Hospital, Oulu, Finland

,

Hannu Tuominen

⁴Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland

,

Riikka Keski-Filppula

⁵PEDEGO Research Unit, Department of Clinical Genetics, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland

,

Seppo Rytky

⁶Department of Clinical Neurophysiology, Oulu University Hospital, Oulu, Finland

,

Leila Risteli

²PEDEGO Research Unit, Department of Clinical Genetics, Northern Finland Laboratory Centre (NordLab), Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland

,

Johanna Uusimaa

¹PEDEGO Research Unit, Department of Children and Adolescents, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland

⁷Biocenter Oulu, University of Oulu, Oulu, Finland

› Author Affiliations

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Treatment with riboflavin improved his muscle strength, liver size, and biochemical markers. A homozygous mutation of electron transfer flavoprotein dehydrogenase (ETFDH) was found. His motor skills continued to progress until a fatal infection-triggered deterioration at the age of 34 months. We show changes in brain magnetic resonance imaging over the course of the disease, with profound white matter abnormalities during the deterioration phase. Aggregates of mitochondria with abnormal cristae in muscle electron microscopy were noticed already in infancy. An unusual lactate dehydrogenase (LDH) isoenzyme pattern with LDH-1 predominance was additionally observed. This case demonstrates riboflavin-responsiveness in a severely affected infant with both muscular and extramuscular involvement and further underlines the variable nature of this disease.

Keywords

MADD - glutaric aciduria type 2 - ETFDH - infant

Full Text

References

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