OMIM = Online Medalian Inheritance of Men
very rare
autosomal recessive
mutation in the ACY1 gene
behavior, autism or autistic-like
behavior, hyperactive, restless
cerebellar atrophy or hypoplasia
cortical or cerebral atrophy
feeding difficulties, poor feeding
hearing defect, deafness
motor retardation
muscle weakness
no consistent clinical signs or symptoms
onset, neonatal
laboratory finding
N-Acetylserine0.000.00 increasedurineno data
N-Acetylglutamate0.000.00 mmol/mol creatinineurine
N-Acetylalanine0.000.00 increasedurineno data
N-Acetylmethionine0.000.00 increasedurineno data
N-Acetylglycine0.000.00 increasedurineno data
N-Acetylthreonine0.000.00 increasedurineno data
N-Acetylleucine0.000.00 increasedurineno data
N-Acetylvaline0.000.00 increasedurineno data
N-Acetylisoleucine0.000.00 increasedurineno data
MRI, brain, abnormalities -
Aminoacylase I decreased activitylymphoblasts
N-Acetylasparagine0.000.00 increasedurineno data
N-Acetylglutamine0.000.00 increasedurineno data
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