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Summary
METHYLMALONIC ACIDURIA, cblB TYPE
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
251110
OMIM = Online Medalian Inheritance of Men
79311
12q24.11
  • vitamin B12 (hydroxycobalamin)
rare
autosomal recessive
mutations in the MMAB gene
patients with cblB are less responsive to vitamin B12 therapy than those with cblA
symptoms
anemia
coma
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hyperammonemia
hyperglycemia
hypotonia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
neutropenia (decreased neutrophils)
onset, childhood
onset, neonatal
respiratory distress
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Thrombocytes, Platelets decreasedblood
Methylmalonic acid0.000.00 increasedurineno data
Ketone bodies0.000.00 increasedurineno data
Ammonia increasedblood
Methylmalonic acid increasedserum
Glycine increasedplasma
Literature
Clayton PTet al.Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretionJ Clin Invest1083457-4652001
Jaeken JKomrower Lecture. Congenital disorders of glycosylation (CDG): its all in it!J Inherit Metab Dis26099-1182003
Eaton Set al.Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?Biochem Soc Trans3101137-11392003
Molven Aet al.Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidationDiabetes531221-2272004
Nanjee MNet al.A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100Atherosclerosis1700105-1132003
Al Mutairi F,et al.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiencyClin Genet914629-6332016
Clayton PTet al.Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretionJ Clin Invest1083457-4652001
Barone R,Fiumara A, Jaeken JCongenital disorders of glycosylation with emphasis on cerebellar involvementSemin Neurol343357-3662014