Background: life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. Fertility and pregnancy represent a big issue for women. Reduced quality of life has been described in children, but no data are available for adults. Patients and methods: a total of 31 female with GSD I who were≥ 16 years (mean age 27±7) were included. Data about fertility and pregnancies were obtained from clinical records and interviews. 23 patients completed the questionnaire SF36 for quality of life assessment. Results: 25.8% of patients had delayed menarca; 16.1% of patients had documented polycystic ovaries. 5 successful spontaneous pregnancies in 4 patients with GSD Ia and 2 in a woman with GSD Ib were reported. The latter had development and enlargement of hepatic adenomas during pregnancies. While standardized physical and mental component scales were near normality in GSD Ia patients, they were lower in GSD Ib and inversely correlated with the number of drugs taken. Conclusion: successful pregnancies are possible in women with GSD Ia and Ib, but monitoring for adenomas is mandatory. Impaired quality of life is evident especially in patients with GSD Ib. Background: Fabry disease is a X-linked lysosomal storage disorder leading to multi-systemic life-threatening complications including an increased risk of stroke in young adults. Methods: The FIND ("Fabry: Initiative Nationale de Dépistage") was conducted between 2007 and 2009. Cases were men, aged 28 days to 55 years, with a first or recurrent ischemic stroke (50 adult neurology centers and 8 neuropediatric departments). Enzymatic activity of αgalactosidase A was measured by dried blood spots (DBS) using a filterpaper test. When activity was below a threshold a second visit was scheduled to answer a questionnaire oriented to confirm FD diagnosis using the gold standard leucocyte enzyme activity assay. Results: The study sample consisted of 902 men with a mean age of 43 years old. Low plasma α-galactosidase A activity was detected in 3 patients but enzyme activity didn't confirm FD diagnosis. A 59-year-old man, who was wrongly included , also showed a reduced activity of α-Gal A. FD diagnosis was confirmed by a reduced enzyme activity. Conclusions: Specific populations may be screened systematically for FD with a simple method using DBS. Our results suggest that the yield for FD screening in young patients with ischemic stroke is low. Supplementation of medium-chain triglycerides prior to exercise has been shown to reduce the biochemical abnormalities of long-chain fatty acid oxidation in individuals with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. It has also been shown to increase levels of βhydroxybutyrate and lower heart rate during exercise. Titrating the patient's dose to their metabolic needs may optimize the therapeutic benefit. By optimizing the dose of pre-exercise MCT oil, we hope to avoid exerciseinduced rhabdomyolysis and reduce the risk for arrhythmia by eliminating muscle catabolism and break down of endogenous long-chain fatty acids. In order to test this in the clinic setting, we designed a real-time protocol that could be implemented by the patient, without supervision, using facilities readily available in the community. We focused on monitoring CK, β-hydroxybutyrate, lactate and acylcarnitines for potentially toxic long-chain species. Monitoring was by serum samples and blood dot cards performed at measured time points, pre-and post-MCT oil supplementation and prescribed exercise. Preliminary results suggest that real-time monitoring of patients with LCHAD is feasible and allows determination of clinically relevant parameters; enabling fine tailoring of management plans to suit the patient's individual and potentially changing needs. deficiency is considered to be a rare but treatable cause of epileptic encephalopathy in children. Two clinical forms of PGDH deficiency have been described until now, that differ mostly by their degree of severity. The infantile form associates congenital microcephaly, severe psychomotor retardation and intractable seizures, inconstantly associated with cataracts, nystagmus, and spastic tetraparesis. A milder form has been reported in two siblings who presented with absence seizures of juvenile onset and mild developmental delay. Here, we report the case of genetically confirmed 3-PGDH deficiency in an adult who presented with congenital cataract, mild psychomotor retardation, and chronic axonal sensorimotor polyneuropathy mimicking Charcot-Marie-Tooth (CMT) disease. Amino acid analysis showed low serine levels in plasma and Cerebrospinal fluid (CSF). Treatment with high dose of serine resulted in normalization of plasma serine values and subjective functional improvement.