Visit Metagene.de!
Summary
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PDHBD
614111
OMIM = Online Medalian Inheritance of Men
255138
3p14.3
rare
autosoma recessive
mutation in the PDHB gene
symptoms
developmental delay
failure to thrive
hyporeflexia
hypotonia
ketosis, ketoacidosis
lactic acidosis
Leigh syndrome
microcephaly (<2 SD for age)
onset, neonatal
pyramidal signs
laboratory finding
Ketone bodies +/++urine
Lactic acid3.00 mmol/lplasma
Alanine increasedserum
MRI, brain, abnormalities -
Pyruvic acid increasedplasma
Literature
Rao AP,et al.Phenotypic Variability in Majeed SyndromeJ Rheumatol4361258-12592016
Majeed HA,et al.Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblingsJ Pediatr1155730-7341989
Pinto-Fern+índez C,Seoane-Reula MEEfficacy of treatment with IL-1RA in Majeed syndromeAllergol Immunopathol (Madr)45199-1012017