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These findings suggest that deviation of NMDAR function in either direction contributes to the development of ASDs, and that correcting NMDAR dysfunction has therapeutic potential for ASDs.
Among known synaptic proteins implicated in ASD are metabotropic glutamate receptors (m Glu Rs).
Week 5 is the start of the “embryonic period.” This is when all the baby’s major systems and structures develop. Tissue grows that will the baby’s spine and other bones. Phenylketonuria (PKU): Deficiency of the enzyme PAH results in high levels of phenylalanine in the blood.
The embryo’s cells multiply and start to take on specific functions. Blood cells, kidney cells, and nerve cells all develop. Baby’s heart continues to grow and now beats at a regular rhythm. Mental retardation results if the condition is not recognized.
A total of 18 different variations in the GALT gene were found in the patient cohort: 12 missense, 2 frameshift, 1 nonsense, 1 deletion, 1 silent variation, and 1 intronic. Increasing evidence indicates that dysfunction of NMDA receptors (NMDARs) at excitatory synapses is associated with ASDs.
This discussion is quite comprehensive, as it involves a consideration of the heart, the lungs, the brain, and the liver, to a large extent, and also the kidneys and skeletal development. Various enzyme deficiencies inside lysosomes can result in buildup of toxic substances, causing metabolic disorders including: Galactosemia: Impaired breakdown of the sugar galactose leads to jaundice, vomiting, and liver enlargement after breast or formula feeding by a newborn.
No neonatal deaths due to galactosemia complications occurred after the introduction of the neonatal screening program. However, some fall onto common pathways, including synaptic function and chromosome remodeling, suggesting that core mechanisms may exist.