Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency

Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.     

Severe Acidosis in a Neonate with Pulmonary Valve Stenosis: A Possible Stress Inducer of a Fatal Syndrome of Fructose-1,6-Biphosphatase and Aldolase Deficiency

ABSTRACT. A neonate is described whose clinical condition rapidly and irreversibly deteriorated on day two. He developed a profound acidosis, hypoglycaemia and a shock-like syndrome. The infant was centrally cyanosed and had a systolic murmur from a moderately severe pulmonary valve stenosis and a small atrial septal defect. The overwhelming acidosis was inconsistent with the severity of the congenital heart defects and as no infection was found a metabolic cause was sought. Liver tissue obtained at autopsy shortly after death on day four, showed deficiencies of fructose-l,6-biphosphatase and aldolase.     

Hyperbaric oxygen should not be used in the management of hemorrhagic cystitis in patients with Fanconi anemia

Hemorrhagic cystitis (HC) is a common complication after stem cell transplantation (SCT) that occurs more frequently in patients with Fanconi anemia (FA) because of hypersensitivity of their cells to the agents used in the preparation for SCT (chemo and radiation). Many HC cases respond to therapy with hyperhydration and maintenance of adequate platelet counts, but refractory cases may require additional measures such as the use of prostaglandins, alum, or hyperbaric oxygen (HBO). We report here an unusual complication to HBO therapy in a FA patient consisting of generalized edema mimicking capillary leak syndrome but with no pulmonary edema or ascites.     

Cardiovascular function before and after iron therapy by echocardiography in patients with iron deficiency anemia

BACKGROUND: The aim of the study was to estimate the left ventricular contractility using the ratio of left ventricular end-systolic wall stress to left ventricular end-systolic volume index in patients with iron deficiency anemia, for which there are no previous reports. METHODS: Cardiovascular functions were evaluated using echocardiography and pulsed Doppler echocardiography in 30 children aged 3-14 years (hemoglobin 4.9-8.5 g/dL), before, during and after iron therapy. We also studied 38 healthy children as a control group. RESULTS: The left ventricular preload was significantly higher and the left ventricular afterload was lower in the patients with anemia before iron therapy. The ratio of left ventricular end-systolic wall stress to left ventricular volume, an index of systolic function that is independent of preload and afterload, was significantly lower in the patients with anemia before iron therapy (before iron therapy 2.13 +/- 0.44, after therapy 3.52 +/- 0.76, healthy controls 3.42 +/- 0.70). Left ventricular early diastolic filling was significantly higher in the patients with anemia before iron therapy. The cardiac index was also significantly higher before therapy because of the increases in preload, heart rate and early diastolic filling, as well as the decrease of afterload. There were no significant differences in the indices of cardiovascular function between anemic patients after iron therapy compared with control subjects. CONCLUSIONS: The ratio of left ventricular end-systolic wall stress to the left ventricular volume index and the cardiac index suggested that a hemoglobin concentration < or = 6 g/dL was associated with left ventricular dysfunction and circulatory congestion.     

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests

To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene.     

Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan

Objectives

We conducted a questionnaire survey on the efficacy and side effects of ketogenic diet (KD) therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) as well as issues associated with long-term KD therapy from the viewpoint of patients' families.