TY - JOUR
T1 - Reversible brain atrophy in glutaric aciduria type 1
AU - Numata-Uematsu, Yurika
AU - Sakamoto, Osamu
AU - Kakisaka, Yosuke
AU - Okubo, Yukimune
AU - Oikawa, Yoshitsugu
AU - Arai-Ichinoi, Natsuko
AU - Kure, Shigeo
AU - Uematsu, Mitsugu
N1 - Funding Information:
This research was partially supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development, AMED.
Publisher Copyright:
© 2017 The Japanese Society of Child Neurology
PY - 2017/6
Y1 - 2017/6
N2 - Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 in newborns. Early treatment can prevent irreversible neurological injury. We report the case of a girl with GA1 who exhibited a characteristic reversible change upon brain magnetic resonance imaging (MRI). She was diagnosed with GA1 as a newborn. She commenced dietary carnitine and her intake of lysine and tryptophan were reduced at the age of 4 weeks. After treatment commenced, her mean glutarylcarnitine level was lower than that in the previous reports. The plasma lysine and tryptophan levels were maintained below the normal ranges. At 4 months, brain MRI revealed a widened operculum with dilatation of the subarachnoid spaces surrounding the atrophic bilateral frontotemporal lobes; this is typical of GA1 patients. However, at 17 months, MRI revealed that the atrophic lesion had disappeared and she subsequently underwent normal maturation. She has never suffered a metabolic decompensation episode. At 26 months, her development and brain MRI were normal. The present reversible brain atrophy in a patient with GA1 indicates that early dietary modifications with a lower level of glutarylcarnitine and administration of carnitine can lead to normal development.
AB - Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 in newborns. Early treatment can prevent irreversible neurological injury. We report the case of a girl with GA1 who exhibited a characteristic reversible change upon brain magnetic resonance imaging (MRI). She was diagnosed with GA1 as a newborn. She commenced dietary carnitine and her intake of lysine and tryptophan were reduced at the age of 4 weeks. After treatment commenced, her mean glutarylcarnitine level was lower than that in the previous reports. The plasma lysine and tryptophan levels were maintained below the normal ranges. At 4 months, brain MRI revealed a widened operculum with dilatation of the subarachnoid spaces surrounding the atrophic bilateral frontotemporal lobes; this is typical of GA1 patients. However, at 17 months, MRI revealed that the atrophic lesion had disappeared and she subsequently underwent normal maturation. She has never suffered a metabolic decompensation episode. At 26 months, her development and brain MRI were normal. The present reversible brain atrophy in a patient with GA1 indicates that early dietary modifications with a lower level of glutarylcarnitine and administration of carnitine can lead to normal development.
KW - Glutaric acid
KW - Glutaric aciduria type 1
KW - Reversible brain atrophy
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U2 - 10.1016/j.braindev.2017.01.003
DO - 10.1016/j.braindev.2017.01.003
M3 - Article
C2 - 28143689
AN - SCOPUS:85011004193
VL - 39
SP - 532
EP - 535
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 6
ER -