Genetics
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH 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 serine-deficiency syndromes. Although there is some clinical overlap between NLS and these neurometabolic disorders, the phenotype in other serine-deficiency disorders is milder. Diagnosis
The diagnosis is usually based on clinical features present at birth. Ultrasound in the second trimester may show abnormalities associates with NLS, including polyhydramnios, intrauterine growth restriction, microcephaly, proptosis and decreased fetal motility. Treatment
Serine and glycine supplementation has shown tentative benefits in those with related serine biosynthesis defects and milder forms of NLS. Prognosis
The prognosis is poor; affected individuals are either stillborn or die shortly after birth. The longest survival reported in literature is of 134 days. This syndrome is transmitted as an autosomal recessive disorder and there is a risk for recurrence of 25% in future pregnancies. References


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MMF was judged a consequence of a switch to intramuscular injection and the deltoid muscle being the preferred site of both vaccine injection and biopsy in France (while other sites were preferred for biopsy in other countries) and the commencement of HBV vaccination in French adults. Similar lesions could be detected in babies and children upon biopsy of the quadriceps as this is the site of vaccine administration in this group. MMF could also be experimentally reproduced in animals, with regression over time. It has been proposed that in a small portion of the population, vaccination results in persistence of aluminium-compound particles in macrophages in association with myalgia, fatigue, and cognitive dysfunction. A MMF disorder has been compared to autoimmune/inflammatory syndrome induced by adjuvants. A case-controlled study in France found those with MMF were more likely to have received aluminium-containing vaccines. MMF was also associated with fatigue “and related functional limitations", with fatigue more common in the beginning of the malady that led to the biopsy. However, neither myalgia, arthralgia, nor any other symptoms or risk factors were identified as specific to those with MMF.Many of those with MMF had previously been treated for malaria with chloroquine or hydroxychloroquine.As of 2009, with few exceptions, MMF had only been reported in France. == References ==