home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 509      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2021  |  Volume : 16  |  Issue : 1  |  Page : 75-78

Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene

1 Department of Pediatric Neurology, Indira Gandhi institute of Child Health, Bengaluru, Karnataka, India
2 Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

Correspondence Address:
Dr. Vykuntaraju Kammasandra Gowda
Department of Pediatric Neurology, Indira Gandhi institute of Child Health, 1st Block, Siddapura, Jayanagar, Bengaluru 560029, Karnataka.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_63_20

Rights and Permissions

Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy presented with global developmental delay and stiffness of limbs. Examination revealed normocephaly and generalized dystonia. MRI T2WI was suggestive of symmetrical posterior putaminal atrophy. Tandem mass spectroscopy (TMS) and urinary gas chromatography-mass spectrometry (GCMS) were normal. Genetic analysis revealed a novel pathogenic homozygous missense variant in GCDH gene. An 8-year-old girl younger sibling of above child also had developmental delay and dystonia, posterior putamen atrophy in the MRI of brain, and same pathogenic variant in GCDH gene. Parents screening showed heterozygous status in both parents of same pathogenic variant. Any child who presents with global developmental delay with dystonia even with normocephaly, isolated symmetrical posterior putamen changes, with normal TMS and GCMS, a possibility of glutaric aciduria type 1 has to be considered.


Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded40    
    Comments [Add]    

Recommend this journal