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Summary
LATHOSTEROLOSIS
607330
OMIM = Online Medalian Inheritance of Men
46059
11q23.3
very rare
autosomal recessive
SLOS-like phenotype
symptoms
cataract
cholestasis
cirrhosis or fibrosis of liver
cleft palate
clubfoot
corneal clouding
developmental delay
dysmorphism
growth retardation
hearing defect, deafness
hypospadia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
liver failure
liver involvement or dysfunction
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
polydactyly
psychomotor retardation
ptosis (drooping eyelid)
skeletal changes, skeletal abnormalities
small chin or micrognathia
laboratory finding
Lathosterol increasedplasma
Literature
Gillingham MB,et al.Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variantMol Genet Metab1043261-2642011
Chien YH,et al.Fatty Acid oxidation disorders in a chinese population in taiwanJIMD Rep110165-1722013
Purevsuren J,et al.Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1Anal Bioanal Chem40541345-13512013
Dykema DMCarnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variantsAdv Neonatal Care12123-272012