22 Result(s)
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Chapter
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings. We report a fifth patient, with a relatively mild phenotype. He presented at 5...
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Chapter
Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency
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Chapter
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
We report a baby with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency who presented on day 2 with poor feeding and lethargy. She was floppy with hypoglycaemia (1.8 mmol/l) and hyperammonaemia (182...
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Chapter
Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency
S-adenosyl methionine, which is formed from methionine, is an essential methyl donor within the central nervous system. Methionine is formed by the enzyme methionine synthase for whic...
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Chapter
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
Liver dysfunction usually accompanies metabolic decompensation in fatty acid oxidation disorders, including carnitine palmitoyltransferase (CPT) Ia deficiency. Typically, the liver is enlarged with raised plas...
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Article
N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia
Hyperammonaemia is common in neonates with branched-chain organic acidaemias, primarily due to the inhibition of N-acetylglutamate (NAG) synthetase; NAG is an activator for carbamylphosphate synthetase I, the fir...
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Article
Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency
We report a patient with carnitine palmitoyltransferase I (CPT I) deficiency, who presented with acute encephalopathy at 6 months of age. This was precipitated by an episode of gastroenteritis. No hypoglycaemi...
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Article
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis. We report a patient who presented at 10 months of age with hypotonia and global developmental delay. Subsequently,...
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Article
Commentary on: The aetiology of neurological complications of organic acidaemias—a role for the blood–brain barrier. Kölker S, Sauer SW, Surtees RAH, Leonard JV
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Article
Cerebral ketone body metabolism
Ketone bodies (KBs) are an important source of energy for the brain. During the neonatal period, they are also precursors for the synthesis of lipids (especially cholesterol) and amino acids. The rate of cereb...
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Article
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
Summary: We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene...
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Article
Case Report: Rhabdomyolysis in Glutaric Aciduria Type I
Recurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I. We report rhabdomyolysis in a second, unrelated patient, suggesting that there may be a specific association ...
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Article
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
Inborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of the mitochondrial t...
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Article
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
Cardiomyopathy is common in infants with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Resolution of the cardiomyopathy can often be achieved by avoidance of fasting and changing from a conventional ...
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Article
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Plasma and erythrocyte fatty acids have been measured in 9 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency being treated with a low-fat diet. No significant abnormality was detected and in ...
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Article
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency
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Article
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder of gluconeogenesis. Mutations have recently been identified in Japanese patients but none has been reported in patients of oth...
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Article
N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate
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Article
Acylcarnitine analysis in the investigation of myopathy
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Article
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency
