Spondylocostal dysostosis associated with methylmalonic aciduria.
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.
Instituto da Criança, University of São Paulo, São Paulo, Brazil. rachel.honjo@gmail.com
Rachel S
RS
Honjo
Erasmo B
EB
Casella
Maria A
MA
Vieira
Débora R
DR
Bertola
Lilian M J
LM
Albano
Luiz A
LA
Oliveira
Shosuke
S
Nomachi
Junji
J
Hanai
Jean-François
JF
Benoist
Sian
S
Ellard
Elizabeth
E
Young
Chong A
CA
Kim
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics*; D002331:Carnitine / Q000008:administration & dosage; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D018389:Codon, Nonsense; D004413:Dysostoses / Q000235:genetics*; D005091:Exons; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000652:urine; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000652:urine; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging / Q000473:pathology; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000008:administration & dosage
D018389:Codon, Nonsense; C497512:MMAA protein, human; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D014805:Vitamin B 12; D002331:Carnitine