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Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC

Frontiers
We describe a patient who was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH.
7 months ago

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement

Nature
Glutaric Aciduria type I (GA1) is a rare neurometabolic disorder caused by mutations in the GDCH gene encoding for glutaryl-CoA...
10 months ago

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings

Cureus
Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase deficiency. Neuroimaging findings associated with...
2 months ago

mRNA therapy shows promise for curing children's rare liver disease

News-Medical
The research, published in Science Translational Medicine, found that messenger RNA (mRNA) could be used to correct a rare liver genetic disease.
8 months ago

Rescue of glutaric aciduria type I in mice by liver-directed therapies

Science | AAAS
Gene therapy approaches targeting liver metabolism were sufficient to arrest the accumulation of toxic catabolites in the brains of the GA-1 mice.
17 months ago

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Frontiers
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria, type VIII (MGCA8), an extremely rare autosomal recessive disorder with fewer than ten families...
7 months ago

Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report

Cureus
Glutaric aciduria type 1 (GA1) is an organic aciduria inherited in an autosomal recessive pattern, with an occurrence rate of one in 100000.
2 months ago

Promising study suggests that AAV-based gene therapy can treat glutaric aciduria type I

Medical Xpress
A study with her co-authors to explore the potential of adeno-associated virus (AAV) to treat GA-I patients. Their results have now been published in...
22 months ago

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Frontiers
MDDS associated with SUCLG1 and SUCLA2 genes can be detected biochemically by the presence of methylmalonic aciduria besides the elevation of lactate, C3, C4DC...
10 months ago

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Nature
Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO...
73 months ago