Case report: glutaric aciduria type I

*Correspondence: [e-mail].

Abstract

Case Presentation: O.P.R., 7 months old, female, was admitted to the clinic with irritability, intolerable crying, and hypertonia in the right hemibody for 2 days, associated with delayed global development with regression of milestones 1 month ago. Physical examination revealed macrocephaly, absent cervical support, global hypotonia, and no other alterations. A computed tomography (CT) scan of the skull with accentuation of the cortical sulci and cephalic cisterns, mainly near the lateral sulci/sylvian fissure and electroencephalogram (EEG), without alterations. Molecular panel collected, positive for glutaric aciduria type I. After diagnosis, L-carnitine was introduced, dietary guidelines were given, and the patient was referred to a reference service.

Discussion: Glutaric aciduria type I, or glutaryl CoA dehydrogenase deficiency, is an autosomal recessive metabolic disorder resulting from a homozygous or compound heterozygous mutation in the gene encoding glutaril CoA dehydrogenase on chromosome 19p13.2, with an incidence of 1:100,000 live births. It is characterized by normal embryofetal development, asymptomatic period, symptoms in spurts usually triggered by metabolic crises. It may present delayed development or regression after an infectious or immunizing condition. Its clinical picture is composed of neurological deterioration, hypotonia, movement disorders such as dystonia, choreathetosis, diplegia and opisthotone, epileptic seizures, neuronal loss in the basal ganglia and gliosis. In complementary examinations we observe metabolic acidosis, ketonuria, ketonemia, hypoglycemia, glutaryl CoA dehydrogenase deficiency, frontotemporal atrophy, widening of the cortical sulci, dilatation of the lateral ventricles. The diagnosis is made by molecular study or substrate dosage, such as acylcarnitine profile and urinary organic acids. Treatment is based on a lysine-restricted diet and carnitine supplementation.

Final Comments: Given this situation, the importance of regular follow-up is reaffirmed, especially in early childhood and early referral whenever there are warning signs of neurodevelopment, especially with the goal of early diagnosis in order to reduce future sequelae.

Publication History

Article published online:
12 May 2025