What is SQUALENE SYNTHASE DEFICIENCY?

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]

SQUALENE SYNTHASE DEFICIENCY

Disease	SQUALENE SYNTHASE DEFICIENCY
Synonym	NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS
OMIM	618156 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Squalene synthase
ExPASy	2.5.1.21
Gene locus
ICD
Summary	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]
Laboratory findings	2-Methylfumaric acid inc (urine) 3-Methyladipic acid inc (urine) Cholestanol dec (plasma) Cholesterol decreased (plasma) Triglycerides normal (serum) 2-Methylsuccinic acid inc (urine) 1-Methylhydantoin inc (urine) 2-Methylfumaric acid inc (urine) Deoxycorticosterone inc (urine) Farnesol inc (plasma) Mevalonolactone inc (urine) Squalene normal/dec (plasma) Squalene inc (urine)
Symptoms	developmental delay dysmorphism irritability seizures skeletal changes, skeletal abnormalities white matter changes, abnormalities behavior, autism or autistic-like blindness, visual loss, visual impairment brain malformation cryptorchism failure to thrive genital malformation heart involvement hyperreflexia hypersalivation hypoplasia of optic nerve or disk hypospadia intellectual disability/intellectual developmental disorder liver involvement or dysfunction low birthweight (small for gestational age) onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area skin, abnormal syndactyly