Page 102 - BH-2-3

Brain & Heart L2-hydroxyglutaric aciduria

in some families. Twelve families were found to possess Author contributions
12
c.293A>G p.(His98Arg) gene variant. Two families were
identified with homozygous variants in the same gene. In Conceptualization: Maththage H.K. Amarasekara,
one family, the affected child was presented, at 23 months Ranawaka Arachchige S.R. Gunasekara
of age, with generalized tonic-clonic seizures, relative Investigation: Maththage H.K. Amarasekara, Ranawaka
macrocephaly, slight global psychomotor retardation, Arachchige S.R. Gunasekara
and subcortical leukodystrophy at 4 years of age. In Writing – original draft: Maththage H.K. Amarasekara,
Pyara Rathnayake, Eresha Jasinge
another family, the affected child was presented with Writing – review & editing: Maththage H.K. Amarasekara,
psychomotor retardation, global developmental delay, and Arndt Rolfs, Christian Beetz, Sabine Schroder, Pyara
cerebellar signs at the age of 6 years, and with subcortical Rathnayake, Eresha Jasinge
leukodystrophy at the age of 8 years. Therefore, these
findings indicate that individuals carrying the c.293A>G Ethics approval and consent to participate
p.(His98arg) gene mutation seem to demonstrate
consistent phenotype. Six families were identified to carry Informed written consent was obtained before the
the c.829c>T p.(Arg277٭) gene variant. One affected child participation from the patient’s father.
carrying this variant presented with developmental delay, Consent for publication
loss of milestones, cerebellar ataxia, and extrapyramidal
signs with no macrocephaly or behavioral problems Informed written consent was obtained from the patient
at 8 months of age. Therefore, this gene variant also himself and the parents for publication of the images of
correlates, to a certain extent, with the phenotype of the investigation reports in an international journal.
mutation carriers. Availability of data
The patient was initially indicated to be managed
through a multidisciplinary approach, but he was less Data are available from the corresponding author upon
compliant with the medical management and defaulted reasonable request.
st
to follow-up. During the 1 month of follow-up, the same References
2HG peak remained in the UOA chromatogram, probably
due to the delay in disease diagnosis and treatment where 1. Balaji P, Viswanathan V, Chellathurai A, Panigrahi D. An
neuronal damage had already been resulted. interesting case of metabolic dystonia: L-2 hydroxyglutaric
aciduria. Ann Indian Acad Neurol. 2014;17(1):97-99.
4. Conclusion doi: 10.4103/0972-2327.128565

This case report underscores the importance of 2. Duran M, Kamerling JP, Bakker HD, van Gennip AH,
incorporating UOA analysis in the diagnostic process Wadman SK. L-2-hydroxyglutaric aciduria: An inborn
for a patient presenting with learning disability together error of metabolism? J Inherit Metab Dis. 1980;3(1):
with neurological involvement, to evaluate the possible 109-112.
involvement of rare neurometabolic disorders such as doi: 10.1007/BF02312543
L2HGA.
3. Spatz MA. Genetics home reference. J Med Libr Assoc.
Acknowledgment 2004;92:282-283.
5. Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and
The authors would like to extend the acknowledgments malignant brain tumor: A case report and literature review.
to CENTOGENE GmbH, Miss. Varuni Gunarathne, J Neurooncol. 2009;91(2):233-236.
medical laboratory technologist and all the staff of the
metabolic and chemical pathology laboratory, at the Lady doi: 10.1007/s11060-008-9706-2
Ridgeway Hospital for Children in Sri Lanka. The authors 6. Zafeiriou DI, Ververi A, Salomons GS, et al. L-2-
would also like to thank the patients and parents for their Hydroxyglutaric aciduria presenting with severe autistic
contributions. features. Brain Dev. 2008;30(4):305-307.
doi: 10.1016/j.braindev.2007.09.005
Funding
7. Mühlhausen C, Salomons GS, Lukacs Z, et al. Combined
None. D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency):
Clinical course and effects of citrate treatment. J Inherit
Conflict of interest Metab Dis. 2014;37(5):775-781.
All authors declare no conflicts of interest. doi: 10.1007/s10545-014-9702-y

Volume 2 Issue 3 (2024) 6 doi: 10.36922/bh.2145