Autosomal recessive metabolic disease

Synopsis

 Failure to thrive
 Macrocephaly
 Hepatomegaly
 Dystonia
 Hypotonia
 Choreoathetosis
 Opisthotonus
 Infantile encephalopathy
 Spastic diplegia
 Dilation of lateral ventricles
 Widening of cortical sulci
 Symmetrical progressive demyelination
 Hypodensity of lenticular nuclei
 Hypodensity of caudate

Biology

 Glutaricaciduria
 Glutaryl-CoA dehydrogenase deficiency
 Metabolic acidosis
 Ketonemia
 Ketonuria
 Hypoglycemia

Epidemiology

 Prevalent

• Old Order Amish of Lancaster County, Pennsylvania
• Saulteaux/Ojibway Indians of Canada

 Onset of illness often associated with acute infection

Etiology

 glutaricacidemia I is caused by mutation in the gene GCDH encoding glutaryl-CoA dehydrogenase (MIM.608801).

See also

 multiple acyl-CoA dehydrogenation deficiency (MADD) (glutaric aciduria type 2) (MIM.231680)