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

ABSTRACT. Objective. We report serial magnetic resonance (MR) and sonographic behavior of globus pallidus in 5 preterm and 3 term infants with kernicterus and describe the clinical context in very low birth weight preterm infants. On the basis of this information, we suggest means of diagnosis and prevention.Methods. Charts and MR and ultrasound images of 5 preterm infants and 3 term infants with suspected bilirubin-associated brain damage were reviewed. Included were preterm infants with severe hearing loss, quadriplegic hypertonia, and abnormal hypersignal of globus pallidus on T2-weighted MR imaging (MRI). In 1 infant who died on day 150, the diagnosis was confirmed during the neonatal period. The others were picked up as outpatients and scanned at 12 or 22 months' corrected age. Three instances of term kernicterus were included for comparison of serial MRI in the neonatal period and early infancy: they were caused by glucose-6-phosphate dehydrogenase deficiency, urosepsis, and dehydration plus fructose 1-6 biphosphatase deficiency.Results. Five preterm infants of 25 to 29 weeks' gestational age presented with total serum bilirubin (TSB) levels below exchange transfusion thresholds commonly advised. Mixed acidosis was present in 3 infants around the TSB peak. The bilirubin/albumin molar ratio was >0.5 in all, in the absence of displacing drugs. All failed to pass bedside hearing screen tests and had severe hearing loss on auditory brain response testing. Symmetrical homogeneous hyperechogenicity of globus pallidus was the alerting feature in 1 infant. Globus pallidus was hyperintense on T1-weighted MR images in this child. The other infants presented with severe developmental delay as a result of dyskinetic quadriplegia and hearing loss. Globus pallidus was normal on T1-but hyperintense on T2-weighted MR images at 12 or 22 months' corrected age. Subthalamic involvement was documented in coronal fluid attenuated inversion recovery MRI in 2 infants. The term infants with classical clinical presentation in the neonatal period had MR behavior similar to the preterms, but pallidal injury was not recognized with targeted sonographic examination. Their

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“…In term infants with severe hyperbilirubinemia and acidosis, fructose 1-6 biphosphatase deficiency must be excluded. 45 …”

Section: Discussionmentioning

confidence: 99%

Changes in Globus Pallidus With (Pre)Term Kernicterus

et al. 2003

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“…Fructose biphosphatase deficiency (FBP'ase deficiency) (Baker and Winegrad, 1970;Bührdel et al, 1990) is a very rare autosomal recessive disease. Fewer than 100 cases have been reported worldwide in the scientific literature.…”

Section: Frequency and Geneticsmentioning

confidence: 99%

“…Strictly FBP'ase deficiency (Baker and Winegrad, 1970;Bührdel et al, 1990;van den Berghe, 2000;Chen, 2004) is not a defect in the fructose pathway but a defect of gluconeogenesis (compare pathways of fructose, Figure 1). Fifty per cent of patients present as early as in the first week of life with life-threatening acidosis, hypoglycaemia, hyperventilation, convulsions and coma.…”

Section: Diagnosis and Clinical Featuresmentioning

confidence: 99%

Opinion of the Scientific Panel on Dietetic products, nutrition and allergies [NDA] related to the evaluation of fructose for labelling purposes

2005

EFSA Journal

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SUMMARYFructose is a widespread source of energy in human food. High amounts are contained in many fruits, soft drinks, sweets and confectionery, and some vegetables. Fructose is also a component of sucrose. Sorbitol can be metabolised into fructose in human.Fructose is not an allergen. However, several adverse reactions to fructose can occur in humans. They result from inborn errors of metabolism. The rare hereditary fructose intolerance (HFI, prevalence 1:23,000 worldwide) and the very rare fructose biphosphatase (FBP'ase) deficiency are severe, potentially life-threatening diseases during infancy. The rare benign fructosuria (excretion of fructose in urine) does not cause adverse reactions. Intestinal fructose malabsorption (loss of fructose in stool) may cause transient abdominal discomfort which can easily be avoided.Elimination of fructose is the main stay of treatment of HFI and FBP'ase deficiency and has to be instigated after definitive diagnosis. There are no scientifically established and generally accepted tolerable levels for fructose under these conditions.

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“…To date the diagnosis should be confirmed by measuring the enzyme activity in liver tissue; however, detection of urinary glycerol during hypoglycemia and acidosis is an important clue to the diagnosis of FDPase deficiency [2,7]. This test provides an important and noninvasive method to diagnose FDPase deficiency [3,7].…”

mentioning

confidence: 96%

“…In the absence of FDPase, the organism depends on alimentary glucose and glycogenolysis to maintain a normal blood glucose level [4]. FDPase deficiency is an autosomal recessive inherited disease [2,6], resulting in life-threatening attacks of hypoglycemia, associated with metabolic acidosis and hyperuricemia [3,4,5,6,7]. In early infancy these attacks are triggered by infections, vomiting, or food containing fructose [2,6].…”

mentioning

confidence: 99%