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Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
277410
OMIM = Online Medalian Inheritance of Men
79283
2q23.2
  • vitamin B12 (hydroxycobalamin)
isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria
symptoms
anemia
ataxia
behavior, hyperactive, restless
cerebellar atrophy or hypoplasia
cerebral atrophy
coma
dystonia
hyperammonemia
hypotonia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
nystagmus
onset, infancy
onset, neonatal
seizures
speech development, delayed, abnormal
laboratory finding
Homocysteine increasedplasma
L-Methionine decreasedplasma
Homocysteine0.000.00 increasedurineno data
MRI, brain, abnormalities -
Methylmalonic acid0.000.00 normal/increasedurineno data
Methylcitric acid0.000.00 normal/increasedurineno data
Ammonia normal-increasedblood
L-Lactic acid increasedplasma
Ketone bodies increasedurine
Literature
Carlson LAPhilipson BFish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemiaLancet20922-9241979
Baumgartner MRet al.Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthaseHum Mol Genet9192853-28582000
Kara B,et al.Adult phenotype and further phenotypic variability in SRD5A3-CDGBMC Med Genet15102014
Al Mutairi F,et al.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiencyClin Genet914629-6332016
Kuivenhoven JAet al.The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromesJ Lipid Res382191-2051997
Lieu MT,et al.Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylationMol Genet Metab1104484-4892013
Cantagrel V,et al.SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderCell1422203-2172010
Kamoun PAral B, Saudubray JMA new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiencyBull Acad Natl Med1821131-1371998
Kasapkara CS,et al.SRD5A3-CDG: a patient with a novel mutationEur J Paediatr Neurol165554-5562012
Tijssen MAet al.Major and minor form of hereditary hyperekplexiaMov Disord174826-8302002
Stewart WAet al.Successful treatment of severe infantile hyperekplexia with low-dose clobazamJ Child Neurol172154-1562002
Jonas ALecithin cholesterol acyltransferaseBiochim Biophys Acta15290245-2562000