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Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA
277400
OMIM = Online Medalian Inheritance of Men
79282
1p34.1
  • betaine
  • L-carnitine
  • vitamin B12 (hydroxycobalamin)
rare
autosomal recessive
Methylmalonic aciduria and homocystinuria, cblC type is the most common inborn error of vitamin B(12) (cobalamin) metabolism [Lerner-Ellis JP et al. 2006]
symptoms
Amino acids, plasma
anemia
early death
failure to thrive
feeding difficulties, poor feeding
glossitis
heart involvement
hematuria
hemolysis
Hemolytic-uremic-syndrome
hypotonia
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
neutropenia (decreased neutrophils)
nystagmus
onset, adulthood
onset, childhood
onset, infancy
onset, variable age
Organic acids, urine
psychosis
retinal or macular degeneration
seizures
stomatitis
thromboembolism
thrombopenia, thrombocytopenia
laboratory finding
Hemoglobine8.0012.0012.0020.00g/dlblood
Homocysteine increasedplasma
Methylmalonic acid150.0015500.000.002.00mmol/mol creatinineurinenewborn
Protein0.000.00 increasedurineno data
L-Methionine 11.0030.00normal/decreasedplasma
Homocysteine0.000.00 increasedurineno data
Literature
Kos S,Ro++┬ęciszewska-Krawczyk J, Szczepkowski TWCase of hydroxylysinuria and alkaptonuria in a newborn infant with congenital disorders of the connective tissuePediatr Pol477882-8881972
Duran Met al.Inherited 3-methylglutaconic aciduria in two brothers -- another defect of leucine metabolismJ Pediatr10105511982
Bock Aet al.Another unusual case of fucosidosisJ Inherit Metab Dis18093-941995
Hansen PSFamilial defective apolipoprotein B-100Dan Med Bull454370-3821998
Dedoussis GVet al.LDL-receptor mutations in EuropeHum Mutat246443-4592004
Gigarel Net al.Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28Hum Genet1143298-3052003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Krivit Wet al.Hematopoietic stem-cell transplantation in globoid-cell leukodystrophyN Engl J Med338161119-11261998
Park JKet al.Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupPediatr Res533387-3952002
Wang JHegele RA.Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH)Hum Genet1124404-4082003
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
Rees MIet al.Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)Hum Mol Genet117853-8602002
Lapunzina Pet al.Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorderMol Diagn72125-1282003
Molven Aet al.Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous familyAm J Med Genet113140-462002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Becker MARoessler BJHyperuricemia and goutThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201655-16771995
Provenzale JMBarboriak DP, Sims KNeuroradiologic findings in fucosidosis, a rare lysosomal storage diseaseAJNR Am J Neuroradiol160809-8131995
Zhou Let al.Hyperekplexia: a treatable neurogenetic diseaseBrain Dev247669-6742002
Natowicz MRet al.Clinical and biochemical manifestations of hyaluronidase deficiencyN Engl J Med335141029-10331996
Green AGale EAM, Patterson CCIncidence of childhood-onset insulin-dependent diabetes mellitus: the EURODIAB ACE study Lancet3390905-9091992
Jakobs CJaeken J, Gibson KMInherited disorders of GABA metabolismJ Inherit Metab Dis164704-7151993
Sakhaee KPathogenesis and medical management of cystinuriaSemin Nephrol160435-4471996