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Summary
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
PSAT
610992
OMIM = Online Medalian Inheritance of Men
284417
9q21.2
very rare
autosomal recessive
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
early death
feeding difficulties, poor feeding
hypertonia, spasticity
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
laboratory finding
MRI, brain, abnormalities -
L-Serine decreasedplasma
L-Serine decreasedcerebrospinal fluid
Glycine decreasedplasma
Glycine decreasedcerebrospinal fluid
Literature
Schwab KOet al.17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sisterJ Pediatr Endocrinol Metab184403-4112005
Pedersen CBet al.Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiencyJ Biol Chem2784847449-582003
Patell R,et al.Challenges in the successful management of a case of acute intermittent porphyria in IndiaTrop Doct002015
Kuo HC,et al.Porphyric neuropathies in an acute intermittent porphyria familyNeuropathology002015