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A congenital metabolism disorder of autosomal recessive inheritance, caused by homozygous mutation or heterozygous compounds that encode the glutaryl-CoA dehydrogenase gene (GCDH; 608801) located on chromosome 19p13 (OMIM 2017).
The deficiency of the glutaryl-CoA dehydrogenase enzyme produces a failure in the metabolic degradation of certain proteins with accumulation of intermediates such as lysine, hydroxylysine, tryptophan and glutaric acid that are excreted abundantly in urine. There is acylcarnitine deficiency. Neuronal damage occurs, especially in the basal ganglia, with the appearance of these symptoms in the first year of life: macrocephaly, cerebral atrophy, muscular hypotonia and hypertonia, spasms and delayed psychomotor development (Hendlund 2006). There may be subdural hematomas which may be mistaken for child mistreatment (Vester 2016).
Experts agree that breastfeeding is possible, carrying out checks by specialized professionals, who generally combine it with formulas devoid of lysine and low in tryptophan and carnitine addition (BIMDG 2015, Kölker 2011, Gokcay 2006, Huner 2005).
An infant with GA1 was breastfed on demand until 5 months of age and remained asymptomatic (Huner 2005). Another infant, diagnosed at two months after presenting macrocephaly, was breastfed up to 6 months without neurological involvement during that time and a third infant diagnosed at 6 months after presenting with coma and loss of neurological abilities was breastfed until 11 months (Gokcay 2006).