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D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.
These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition, in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine.
This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [7]
These mutations interrupt the transport of serine from astrocytes to neurones, and across the blood brain barrier [10] L-serine is important in brain development as it is a vital component in protein synthesis, as well as being the precursor to several essential compounds, including phosphatidylserine, sphingomyelin, glycine, and D-serine. [2]
Congenital microcephaly due to serine deficiency can be treated by L-serine or L-serine with glycine in order to improve debilitating symptoms such as seizures and psychomotor retardation. [16] Exogenous growth hormones can be used to boost development in microcephalic patients.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH [6] [7] These genes are involved in the serine biosynthesis pathway and are essential for cell proliferation. Mutations in all three genes had been previously identified as the cause of ...
Vitamin B12 deficiency symptoms . Vitamin B12 deficiency has a few hallmark symptoms, according to doctors: Lack of energy. Mental fatigue. Nausea, vomiting, or diarrhea. Lack of appetite. Weight loss
The systematic name of this enzyme class is L-serine hydro-lyase (adding homocysteine; L-cystathionine-forming). Other names in common use include: β-thionase, cysteine synthase, L-serine hydro-lyase (adding homocysteine), methylcysteine synthase, serine sulfhydrase, and; serine sulfhydrylase.