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Summary
SQUALENE SYNTHASE DEFICIENCY
NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS
618156
OMIM = Online Medalian Inheritance of Men
very rare
autosomal recessive
mutations in the FDFT1 gene
2-3 syndactyly of the toes, and facial dysmorphisms, resembling Smith-Lemli-Opitz syndrome [Coman D 2018, 2020]
symptoms
behavior, autism or autistic-like
blindness, visual loss, visual impairment
brain malformation
cryptorchism
developmental delay
dysmorphism
failure to thrive
genital malformation
heart involvement
hyperreflexia
hypersalivation
hypoplasia of optic nerve or disk
hypospadia
intellectual disability/intellectual developmental disorder (ID/ IDD)
irritability
liver involvement or dysfunction
low birthweight (small for gestational age)
onset, infancy
onset, neonatal
photophobia or photosensitive defect in light-exposed area
seizures
skin, abnormal
syndactyly
laboratory finding
Farnesol1.503.90 +€mol/lplasma
Mevalonolactone mmol/mol Creaurine
2-Methylsuccinic acid40.0080.00 mmol/mol creatinineurine
3-Methyladipic acid mmol/mol creatinineurine
3-Methylhex-2-enedioic acid mmol/mol Creaurine
2,6-Dimethylhept-2-enedioic acid mmol/mol creatinineurine
Squalene mmol/mol creatinineurine
Cholesterol mmol/lplasma
Squalene mmol/lplasma
Literature
Cesani M,et al.Mutation Update of ARSA and PSAP Genes Causing Metachromatic LeukodystrophyHum Mutat37116-272016
Rosenberg JB,et al.Gene therapy for metachromatic leukodystrophyJ Neurosci Res94111169-11792016
Lenders JWM,et al.DIAGNOSIS OF ENDOCRINE DISEASE: 18-Oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids?Eur J Endocrinol1781R1-R92018