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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
behavior, hyperactive, restless
cerebellar atrophy or hypoplasia
cerebral atrophy
dystonia
hypotonia
mental retardation
nystagmus
onset, infant
seizures
speech development, delayed, abnormal
laboratory finding
Homocysteine increasedplasma
Methionine decreasedplasma
Homocysteine0.000.00 increasedurineno data
MRI, brain, abnormalities -
Methylmalonic acid0.000.00 normal/increasedurineno data
Methylcitric acid0.000.00 normal/increasedurineno data
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
Kuivenhoven JAet al.The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromesJ Lipid Res382191-2051997
Kamoun PAral B, Saudubray JMA new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiencyBull Acad Natl Med1821131-1371998
Jonas ALecithin cholesterol acyltransferaseBiochim Biophys Acta15290245-2562000
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