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Summary
HAREL-YOON SYNDROME (HAYOS)
617183
OMIM = Online Medalian Inheritance of Men
496790
1p36.33
very rare
autosomal recessive
autosomal dominant
mutation in the ATAD3A gene
symptoms
ataxia
cardiomyopathy
cardiomyopathy, hypertrophic
cerebellar atrophy or hypoplasia
developmental delay
dysmorphism
feeding difficulties, poor feeding
hypotonia
lactic acidosis
muscle atrophy
neuropathy
nystagmus
onset, childhood
onset, infancy
optic atrophy
psychomotor retardation
scoliosis
seizures
speech development, delayed, abnormal
laboratory finding
3-Methylglutaconic acid mmol/mol Creaurine
L-Lactic acid mmol/lplasma
Cholesterol mmol/lplasma
Literature
Prasun P,et al.Skin lesions in a patient with Cobalamin C disease in poor metabolic controlJ Inherit Metab Dis002017
Choi HS,et al.Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary noteJ Inherit Metab Dis002017
Kienstra NS,et al.Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a dayJ Inherit Metab Dis002017
Komatsuzaki S,et al.Impairment of astrocytic glutaminolysis in glutaric aciduria type IJ Inherit Metab Dis002017
Rybova J,et al.Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type IIJ Inherit Metab Dis002017