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Glutaric acidemia type 1 is an inherited disorder in which the
body is unable to process certain proteins properly. People with
this disorder have inadequate levels of an enzyme that helps
break down the amino acids lysine, hydroxylysine and tryptophan,
which are building blocks of protein. Excessive levels of these
amino acids and their intermediate breakdown products can accumulate
and cause damage to the brain, particularly the basal ganglia,
which are regions that help control movement. Mental retardation
may also occur.
The severity of glutaric acidemia type 1 varies widely; some
individuals are only mildly affected, while others have severe
problems. Some babies with glutaric acidemia type 1 are born
with unusually large heads (macrocephaly). Affected individuals
may have difficulty moving and may experience spasms, jerking,
rigidity or decreased muscle tone. Some individuals with glutaric
acidemia have developed bleeding in the brain or eyes that could
be mistaken for the effects of child abuse. Strict dietary control
may help limit progression of the neurological damage. Stress
caused by infection, fever or other demands on the body may lead
to worsening of the signs and symptoms, with only partial recovery.
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