Outcome of three cases of untreated maternal glutaric aciduria type I.
We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child reflected the metabolic state of the mother. Biochemical abnormalities returned to normal within one week. At the age of 4 months, neuroimaging showed Sylvian enlargement in both infants and bilateral temporal arachnoid cysts in one. Physical and neurological developments were normal for the three patients at ages 2 and 5 years. We conclude that long-term follow up will determine the true impact of GA I in such children.
Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.
Paula
P
Garcia
Esmeralda
E
Martins
Luísa
L
Diogo
Hugo
H
Rocha
Ana
A
Marcão
Eurico
E
Gaspar
Margarida
M
Almeida
Catarina
C
Vaz
Isabel
I
Soares
Clara
C
Barbot
Laura
L
Vilarinho
D000328:Adult; D016080:Arachnoid Cysts / Q000175:diagnosis / Q000209:etiology*; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D009154:Mutation; D013997:Time Factors
D005977:Glutarates; D004247:DNA; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid