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Article
Open AccessThe natural history of classic galactosemia: lessons from the GalNet registry
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...
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Article
Cysteamine revisited: repair of arginine to cysteine mutations
Cysteamine is a small aminothiol endogenously derived from coenzyme A degradation. For some decades, synthetic cysteamine has been employed for the treatment of cystinosis, and new uses of the drug continue to...
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Article
Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers ...
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Article
Mutation analysis of Indian patients with urea cycle defects
Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defe...
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Article
Pseudodeficiency of glutamine in infant liver disease
γ-Glutamyltransferase (γ-GT) is an early marker for cholestasis and has the capability of glutamine-deamidation. Two infants with elevated serum γ-GT had a decreased serum glutamine. A time course of glutamine...
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Article
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency
We report the CSF and plasma amino acid concentrations and their ratios in a male patient with arginase1 deficiency with an unusual early presentation at 34 days of age. He developed hyperammonaemic coma (ammo...
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Article
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the regulation of plasma homocysteine levels. MTHFR deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia ...
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Article
8 Neonatal Hyperammonemia Successfully Treated with Carbaglu® in a Neonate with N-Acetyl-Glutamate Syntase Deficiency
Background: Neonatal hyperammonemia is often a sign of a severe urea cycle disorder with fatal outcome. With the introduction of Carbaglu® a new treatment option is available for neonatal hyperammonemia due to N-...
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Article
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay
Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been identified. We describe the genetic analysis of a patient with NAGSD using low-lev...
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Article
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia, an autosomal recessive inherited defect of the urea cycle. Most patients described so far have presented with the classical form of the d...
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Article
New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review
The pentad of thrombocytopenia, haemolytic anaemia, mild renal dysfunction, neurological signs and fever, classically characterizes the syndrome of thrombotic thrombocytopenic purpura (TTP). TTP usually occur...
