GLUTARIC Aciduria Type I

"difficult management of glucose homeostasis in a 21-month-old child with type 1 diabetes and unknown glutaric aciduria type i: a case report.", by Marigliano M, Anton G, Sabbion A, Morandi A, Morandi G, Degani D, Maffeis C. F1: Brain magnetic resonance imaging. The arrows show the hyperintense signal of the caudate nuclei and putamina, as typically happens in patients with GA-I....

Glutaric aciduria type I is a rare hereditary metabolic disorder triggered by a shortage of the mitochondrial enzyme glutaryl-CoA dehydrogenase. Individuals with this problem have deficiency or lack of GCDH enzyme that is involved in the lysine metabolic rate. GCDH deficiency causes increased concentrations of possibly neurotoxic metabolites, glutaric acid, 3-hydroxy glutaric acid and glutaconic acid within body tissues, particularly within the brain. Without treatment, most affected children develop an intense encephalopathic crisis complying with febrile health problem episodes or other catabolic conditions resulting in reciprocal striatal injury and subsequently, dystonic movement disorder. Cognitive result has not been systematically studied, but serious cognitive disorder is seldom seen. In some cases infants with GA1 have been misinterpreted to have been abused since they present with retinal and/or subdural hemorrhages. Infants with GA1 are birthed healthy and may only present with unspecific signs like macrocephaly at birth. Macrocephaly is among the earliest signs of GA1 so newborns with an enlarged head area ought to be examined for GA1. Repetitive stress on the body can cause symptoms to intensify, but in some children, brain damage will occur without a triggering fever. Mild to moderate intellectual disabilities may also accompany these symptoms, yet some research studies have revealed that the intellectual capability of a person with GA1, even if untreated, is not or slightly affected. For 80-90% of people with GA1, motor symptom advancement is preventable, but this needs early diagnosis by newborn testing and therapy from birth on. Possible irreversible neurologic symptoms of an intense encephalopathic situation are.

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