Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
Departments of Pediatrics Dermatology Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Departments of Biochemistry and Molecular Biology Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Saskia
S
Koene
Leo A J
LAJ
Kluijtmans
Ron
R
Wevers
Donald
D
Mock
Marcel
M
Pasch
Eva
E
Morava
D000015:Abnormalities, Multiple / Q000473:pathology*; D019588:Aging, Premature; D001710:Biotin / Q000627:therapeutic use; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D004475:Ectoderm / Q000002:abnormalities*; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000473:pathology*
C002163:beta-methylcrotonylglycine; D001710:Biotin; D005998:Glycine