Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism

Objectives To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria. Study design Patient clinic...

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Veröffentlicht in:	The Journal of pediatrics 2009-04, Vol.154 (4), p.551-556
Hauptverfasser:	Miousse, Isabelle R., BSc, Watkins, David, PhD, Coelho, David, PhD, Rupar, Tony, PhD, Crombez, Eric A., MD, Vilain, Eric, MD, Bernstein, Jonathan A., MD, PhD, Cowan, Tina, PhD, Lee-Messer, Christopher, MD, PhD, Enns, Gregory M., MB, ChB, Fowler, Brian, PhD, Rosenblatt, David S., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - physiopathology Biological and medical sciences Cells, Cultured Cobamides - deficiency Family Health Female Fibroblasts - metabolism General aspects Homocystinuria - genetics Homocystinuria - physiopathology Humans Infant, Newborn Male Medical sciences Membrane Transport Proteins - genetics Methylmalonic Acid - metabolism Mitochondrial Membrane Transport Proteins Mitochondrial Proteins - genetics Pediatrics Phenotype Vitamin B 12 Deficiency - diagnosis Vitamin B 12 Deficiency - genetics Vitamin B 12 Deficiency - physiopathology
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