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Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
TLDR
It is concluded that urine metabolomics is a reliable source for biomarkers of diabetic complications, and the data suggest that renal organic ion transport and mitochondrial function are dysregulated in diabetic kidney disease.
Disorders of purine and pyrimidine metabolism.
  • W. Nyhan
  • Biology, Chemistry
    Molecular genetics and metabolism
  • 1 September 2005
Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
TLDR
ACSF3 deficiency is the first human disorder identified as caused by mutations in a gene encoding a member of the acyl-CoA synthetase family, a diverse group of evolutionarily conserved proteins, and may emerge as one of the more common human metabolic disorders.
Physiology and pathophysiology of organic acids in cerebrospinal fluid
TLDR
Studies of organic acids in CSF and plasma samples are presented from patients with ‘cerebral’ lactic acidosis, disorders of propionate and methylmalonate metabolism, glutaryl-CoA dehydrogenase deficiency andl-2-hydroxyglutaric acidura, it became apparent that derangements oforganic acids in the CSF may occur independently of the systemic metabolism.
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
TLDR
Deficiency of mitochondrial DNA polymerase γ activity was found in a patient with mtDNA depletion and Alpers' syndrome, who died in early childhood of fulminant hepatic failure, refractory epilepsy, lactic acidemia, and coma.
Agenesis of the lung. Report of four patients with unusual anomalies.
TLDR
Parental consanguinity in all four patients suggests an autosomal recessive mode of inheritance in pulmonary agenesis, and cardiac catheterization and angiography are essential procedures for diagnosis and elucidation of the anatomic abnormalities and identification of associated cardiac defects.
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
TLDR
Investigation of the activities of glycine cleavage system in the liver and brain of patient with nonketotic hyperglycinemia showed that the patient was due to reduction of the catalytic activity of the protein rather than a decrease in the actual amount of the P-protein.
Atlas of metabolic diseases
TLDR
The second edition of Atlas of Metabolic Disease, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases.
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