Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

Inherited metabolic diseases (IMD) form a heterogeneous group of genetic disorders that surface primarily during childhood and result in significant morbidity and mortality. A prevalence of 1 in 2500-5000 live births is often reported. The transfer of adolescents from pediatric care to adult health facilities is often difficult for patients and their families and can lead to a breakdown in medical follow-up and therefore serious complications. Existing recommendations for the successful transition of patients with chronic disorders do not specifically address patients with IMDs associated with dietary treatment. Here, the French network for rare inherited metabolic diseases (G2M) presents its reflections and recommendations for a successful transition. Preparations for the transfer must be made well in advance. The transfer must aim for adolescents gaining autonomy by making them responsible and providing them with the knowledge that will enable them to manage their care themselves, know how to react appropriately if there is any change in their condition, and move comfortably within the adult healthcare system. This requires the active participation of the patient, his or her family, and pediatric and adult care teams. It involves multidisciplinary management plus the production and maintenance of an educational therapy program. Finally, the identification of physicians and dietitians trained in IMDs, relevant subspecialists, and even expert patients could improve the continuum of complete and appropriate care for these patients within adult medicine.

[New insights into perinatal hemochromatosis]. / Nouveaux concepts dans l'hémochromatose périnatale.

Perinatal hemochromatosis (PH) includes neonatal acute liver failure (ALF) with cirrhosis and extrahepatic iron overload sparing the reticuloendothelial system. This is the main cause of neonatal ALF. Prognosis is very poor, usually with neonatal death or neonatal orthotopic liver transplantation occurring in more than 70%. The recurrence rate is more than 90%. Diagnosis is hard to make and is proved after exclusion of other neonatal ALF causes. A recent physiopathological hypothesis proposed HP as a maternofetal alloimmune disease against the fetal liver. A maternal antibody may activate the terminal complement cascade, responsible for the membrane attack complex directed against fetal hepatocytes. Maternal prenatal treatment after a pregnancy complicated by PH modifies the course and the prognosis of this disease. In France, approval of prenatal IVIG treatment is required after analysis of clinical and pathological data by a national multidisciplinary committee.

[Congenital galactosaemia: an unusual presentation]. / La galactosémie congénitale: une révélation singulière.

Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children.

BACKGROUND: Liver involvement in mitochondrial respiratory chain disorders (MRCD) frequently ends in liver failure and death. Because of the high risk of extrahepatic, particularly neuromuscular, manifestations of the disease, the indication of orthotopic liver transplantation (OLT) in these patients remains controversial. We report on 5 such children in whom OLT was carried out, in an attempt to help clarify the matter. PATIENTS: Patients 1 and 2 presented with fulminant liver failure at ages 7 and 6 months respectively. Emergency liver transplantation was performed before etiological investigations were completed. Retrospective examination of the explanted livers showed defects in complexes I, III and IV. In patient 1, severe neurological deterioration occurred 2 months after OLT with fatal outcome 9 months later. Patient 2 is alive 22 months after OLT with moderate motor impairment. Patients 3, 4 and 5 presented with progressive liver failure before 6 months of age. Surgical liver biopsies displayed a 50% defect in complex IV (patient 3), a defect in complexes I, IV (patient 4) and in complexes I, III, IV (patient 5). Because there was no clinical extrahepatic involvement on investigations, OLT was carried out in these patients. Patient 3 died of multiple organ failure soon after OLT, patients 4 and 5 are alive respectively 21 months and 12 months after OLT with normal neurological examination. CONCLUSION: OLT may be a valid therapeutic option in infants with delayed liver cell failure due to MRCD, only after performing in emergency a thorough inves tigation to exclude clinically significant extrahepatic, especially neuromuscular, involvement.

Glycinin composition of several perennial species related to soybean.

The 7S and 11S seed storage proteins from four perennials related to soybean (Glycine canescens, G. tomentella, G. tabacina, and G. clandestina) were analyzed by sodium dodecyl sulfate-gel electrophoresis. Each species yielded a unique electrophoretic pattern that varied in the total number of bands and their relative mobilities. In every case, the electrophoretic patterns were substantially different from CX635-1-1-1, the strain of G. max used in this study for comparison. Size heterogeneities among both the 7S and 11S polypeptides of the perennials were evident.Abundant proteins in the 11S fraction from G. tomentella (CSIRO No. 1133) were separated by chromatography on DEAE-Sephadex and then their apparent molecular weights, amino acid compositions, and NH(2)-terminal amino acid sequences were determined. A group of proteins were obtained which resembled the A(1b)-polypeptide components of glycinin from G. max. They had the same size (M(r) approximately 37,000), identical NH(2)-terminal sequences, and similar amino acid compositions to A(1b). A second group of acidic proteins (M(r) approximately 50,000) in G. tomentella had NH(2)-terminal sequences homologous to the A(5) component (M(r) approximately 10,000) of glycinin. The latter group of polypeptides had a substantially higher apparent molecular weight than any acidic polypeptide components of glycinin analyzed previously. A third group of polypeptides purified from G. tomentella were the same size as basic polypeptides of glycinin and had homologus NH(2)-terminal sequences. The results indicated that the perennials exhibit variability in their seed proteins at a level not found among the cultivars of G. max and G. soja and may be useful in studies concerning the origin and organization of genes involved in the synthesis of storage proteins in cultivated soybeans.