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Summary
AMINOACYLASE I DEFICIENCY
609924
OMIM = Online Medalian Inheritance of Men
137754
3q21.2
very rare
autosomal recessive
symptoms
behavior, autism or autistic-like
behavior, hyperactive, restless
cerebellar atrophy or hypoplasia
cortical or cerebral atrophy
encephalopathy
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
motor retardation
muscle weakness
no clinical signs or symptoms
onset, neonatal
seizures
laboratory finding
N-Acetylserine0.000.00 increasedurineno data
N-Acetylglutamate0.000.00 increasedurineno data
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
Literature
Yagi Tet al.Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe diseaseJ Neuropathol Exp Neurol647565-5752005
Jarvela IEMolecular genetics of adult-type hypolactasiaAnn Med373179-1852005
Uchino Yet al.Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutationBr J Dermatol149123-292003
Beccari Tet al.Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosisJ Inherit Metab Dis268819-8202003
Albert MHet al.T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosisBone Marrow Transplant324443-4462003
Hvas AMNexo EHolotranscobalamin as a predictor of vitamin B12 statusClin Chem Lab Med41111489-14922003
Stikkelbroeck NMet al.CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutationsJ Clin Endocrinol Metab8883852-38592003
Kanzaki TSchindler disease/Kanzaki diseaseNippon Rinsho53122982-29871995
Rasinpera Het al.A genetic test which can be used to diagnose adult-type hypolactasia in childrenGut53111571-15762004
Alessandri MGet al.Gas chromatography/mass spectrometry assay for arginine: Glycine-amidinotransferase deficiencyAnal Biochem3432356-3582005
Ueland PMMonsen ALHyperhomocysteinemia and B-vitamin deficiencies in infants and childrenClin Chem Lab Med41111418-14262003
Zhu YSet al.Mutations in CYP11B1 gene: phenotype-genotype correlationsAm J Med Genet. 2003 Oct 15122A(3):193-200. 1223193-2002003