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Summary
BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA
MERCAPTOLACTATE-CYSTEINE DISULFIDURIA AMPOLA SYNDROME
249650
OMIM = Online Medalian Inheritance of Men
1035
unknown
very rare
autosomal recessive
symptoms
anemia
cataract
increased weight for age, height and sex (>2 SD)
mental retardation
nystagmus
seizures
laboratory finding
beta-Mercaptolactate cysteine disulfide increasedurine
mercaptolactate0.000.00 increasedurine
mercaptoacetate0.000.00 increasedurine
Literature
Prasad Cet al.Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening programMol Genet Metab73155-632001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Gibson KMet al.Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaJ Pediatr1180885-8901991
Zaugg CEet al.Myocardial function and energy metabolism in carnitine-deficient ratsCell Mol Life Sci604767-7752003
Kitagawa Tet al.Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometryMol Genet Metab853196-2022005
Nassogne MCet al.Urea cycle defects: management and outcomeJ Inherit Metab Dis284407-4142005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Jeandel Cet al.Thymoma with immunodeficiency (Goods syndrome) associated with selective cobalamin malabsorption and benign IgM-kappa gammopathyJ Intern Med2350179-1821994