The severity of glutaric acidemia<unk> <unk>  varies widely; some individuals are only mildly affected, while others suffer severe problems.<unk>  can be defined as two clinical entities: GA-1 diagnosed at birth or pre-birth and managed through dietary restrictions, and GA-1 diagnosed after an encephalopathic crisis. A crisis may occur under both headings, but the care of individuals diagnosed before a crisis can be managed to avoid most or all injury.<unk>  without encephalopathic crisis Macrocephaly Babies with glutaric acidemia<unk> <unk>  often are born with unusually large heads (macrocephaly). Macrocephaly is amongst the earliest signs of<unk> . It is thus important to investigate all cases of macrocephaly of unknown origins for GCDH deficiency, given the importance of the early diagnosis of<unk> . Macrocephaly is a pivotal clinical sign of many neurological diseases. Physicians and parents should be aware of the benefits of investigating for an underlying neurological disorder, particularly a neurometabolic one, in children with head circumferences in the highest percentiles.<unk>  after an encephalopathic crisis Neuromotor aspects Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity or decreased muscle tone and muscle weakness (which may be the result of secondary carnitine deficiency). GA, in patients who have suffered a crisis, can be defined as a cerebral palsy of genetic origins. Occupational therapy A common way to manage striatal necrosis is to provide special seating. These special wheelchairs are designed to limit abnormal movements. However, spasticity can be worsened by constraint. Parents and caregivers can provide a more interactive occupational therapy by enabling the child to use his or her own excessive postural muscle tone to his or her own advantage (see picture; note the care with which minimal pressure is applied while ensuring safety). The excessive tone can also be managed with "jolly jumpers" and other aids to the upright stance that do not constrain the child but help him or her gradually tone down the rigidity. Bleeding abnormalities Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse.
Glutaric aciduria type 1
Aspartylglucosaminuria
Hawkinsinuria
Alkaptonuria
Homocystinuria
2-Hydroxyglutaric aciduria
Essential fructosuria
Phenylketonuria