Glutaric Acidemia Type 1
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Failure of enzymatic processing of the amino acids – lysine, hydroxylsine, and tryptophan, which results in toxic accumulation of these amino acids (esp. during times of stress) and causes brain toxicity (esp. basal ganglia damage).
Clinical
- Onset: Infancy
- Neurological manifestations: Vary widely, at extreme – macrocephaly, motor spasms, intracranial hemorrhage with notable involvement of the basal banglia.
- Treatment: Dietary limitation of offending amino acids
Genetics
- GCDH gene mutation
- Autosomal recessive
- Key Population: Amish
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov