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Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase. This mitochondrial enzyme is encoded by the GCDH gene localized on gene map locus
How is GA1 treated? The main aim of treatment is to ensure acceptable levels of blood lysine and urinary glutarate and to provide adequate protein to support normal growth and development. The treatment of GA1 is a low protein diet for life, in addition to a lysine free, low tryptophan supplement (synthetic protein).
been established and optimized for GA-I. Dietary treatment in combination with oral supplementation of L-carnitine and riboflavin (less frequently) during maintenance treat-ment, and an intensified emergency treatment during episodes of intercurrent illness are used for the majority of patients. This treatment strategy has considerably
Glutaric aciduria type 1 is an inherited disorder of the breakdown of certain amino acids, notably lysine. Any metabolic stress can lead to serious illness, with encephalopathy and other neurological abnormalities.
Give: 1g/Kg/day of protein equivalent from lysine free, low tryptophan infant formula (this will reduce lysine intake from breast feed to provide around 90 - 135mg/Kg/day, depending on breast feed intake). Divide total volume of infant formula and give equally before 4 to 6 breast feeds over 24h, evenly distributed.
GA1 is treated by avoidance of fasting and dietary supplementation with carnitine in order to avoid metabolic crisis. Prompt treatment of any infection is also recommended to minimize risk of neurological problems. Treatment of a metabolic crisis with intravenous fluids and glucose and carnitine is essential to prevent neurological damage.
GA-1 is caused by problems with the enzyme called "glutaryl-CoA dehydrogenase" (GCDH). In people with GA-1, the GCDH enzyme is either missing or not working properly. This enzyme's job is to break down a substance called glutaryl-CoA.
