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Summary
MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)
BRUNNER SYNDROME
300615
OMIM = Online Medalian Inheritance of Men
3057
Xp11.23
rare
X-linked recessive
Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms [Palmer EE, 2016]
symptoms
behavior, autism or autistic-like
behavior, self-mutilating or destructive
hand movements, abnormal, stereotyped
headache (severe, recurrent or occipital, migraine)
mental retardation
motor retardation
laboratory finding
3-Methoxytyramine0.000.00 increasedurineno data
Serotonine0.000.00 increasedurineno data
Tyramine0.000.00 increasedurineno data
Homovanillic acid0.000.00 decreasedurineno data
Vanillylmandelic acid (VMA)0.000.00 decreasedurineno data
5-Hydroxyindolacetic acid0.000.00 normal/decreasedurineno data
3-Methoxy-4-hydroxyphenylglycol0.000.00 increasedurineno data
Serotonine increasedserum
Literature
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Chang CCet al.Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transferJ Inherit Metab Dis227773-7871999
van t Hoff WGet al.Combined liver-kidney transplantation in methylmalonic acidemiaJ Pediatr13261043-10441998
Danks MDDisorders of Copper transportThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202211-22351995
Paesold-Burda,et al.Deficiency in COG5 causes a moderate form of congenital disorders of glycosylationHum Mol Genet18224350-43562009
Barone R,Fiumara A, Jaeken JCongenital disorders of glycosylation with emphasis on cerebellar involvementSemin Neurol343357-3662014