Who is affected by glutaric aciduria type 1?
Who is affected by glutaric aciduria type 1?
Both brothers are affected by glutaric aciduria type 1. It is inherited in an autosomal recessive pattern, and their parents are first degree cousins. Although the findings described above are not by themselves specific, the combination of findings is highly suggestive of the diagnosis 1.
How is glutaric acidemia treated in the CNS?
The main principles of treatment are to reduce lysine oxidation and enhance physiologic detoxification of glutaryl-CoA. Combined metabolic therapy includes low-lysine diet, carnitine supplementation, and emergency treatment during episodes with the goal of averting catabolism and minimizing CNS exposure to lysine and its toxic metabolic byproducts.
How much L-lysine does glutaric acidemia take?
Table 5. 0-6 mos 7-12 mos 12-47 mos 48-72 mos L-lysine (from dietary natural protein), 100 90 60-80 50-60 Protein from GA-1- specific Lys-free, Tr 0.8-1.3 0.8-1.0 0.8 0.8 Energy, kcal/kg/day 80-100 80 81-94 63-86 L-carnitine, mg/kg/day 100 100 100 50-100
How is neuroimaging used to diagnose organic acidemia?
Neuroimaging may be especially helpful for distinguishing organic acidemias and aminoacidopathies from other more common diseases with similar manifestations, such as hypoxic-ischemic injury and neonatal sepsis.
What happens to a baby with glutaric acidemia?
Many newborns with GA1 have a large head circumference (macrocephaly), but may not have any other symptom. About half will have weak muscle tone (hypotonia) and early signs of developmental delay. If GA1 is untreated, an infection or fever will usually trigger an acute episode that causes serious damage to the basal ganglia.
What are the Orphanet emergency guidelines for glutaric acidemia?
Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition. Glutaric acidemia type 1 (GA1) is a treatable disorder.