J Korean Pediatr Soc.
2003 Mar;46(3):295-301.
A Case of Glutaric Aciduria Type I with Macrocephaly
- Affiliations
-
- 1Department of Pediatrics, Kangnam General Hospital Public Co, Korea. ymahn@kangnamhosp.or.kr
- 2Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Seoul, Korea.
Abstract
- Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Keyword
MeSH Terms
-
Atrophy
Brain
Carnitine
Caudate Nucleus
Diagnosis, Differential
Fibroblasts
Gastroenteritis
Glutaryl-CoA Dehydrogenase
Humans
Hydroxylysine
Immunization
Infant
Lysine
Macrocephaly*
Magnetic Resonance Imaging
Male
Metabolism
Milk
Muscle Hypotonia
Neurologic Manifestations
Parturition
Putamen
Riboflavin
Tandem Mass Spectrometry
Tryptophan
Carnitine
Glutaryl-CoA Dehydrogenase
Hydroxylysine
Lysine
Riboflavin
Tryptophan
