SULFITE OXIDASE DEFICIENCY (SOD)

Question 1

What is  SULFITE OXIDASE DEFICIENCY (SOD)?

Accepted Answer

rare (11 cases)
autosomal recessive
mutation in the sulfite oxidase gene (SUOX)

less severe late onset form described

Trivial trauma can precipitate metabolic crisis in late-onset ISOD [Sharawat IK 2020]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Sulfocysteinurie; Isolierter Sulfitoxidasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 272300

Question 4

Which enzymes are involved?

Accepted Answer

Sulfite oxidase, mitochondrial

Disease	SULFITE OXIDASE DEFICIENCY (SOD)
Synonym	SULFOCYSTEINURIA; ACIDURIA, SULFITE OXIDASE DEFICIENCY; SUOX
OMIM	272300 OMIM = Online Mendelian Inheritance of Men
Orphanet	99731
Protein (UniProt)	Sulfite oxidase, mitochondrial
ExPASy	1.8.3.1
Gene locus	12q13.2
ICD	E72.1
Summary	rare (11 cases) autosomal recessive mutation in the sulfite oxidase gene (SUOX) less severe late onset form described Trivial trauma can precipitate metabolic crisis in late-onset ISOD [Sharawat IK 2020]
Laboratory findings	alpha-Aminoadipic semialdehyde inc (urine) Cystine inc (urine) Homocysteine dec (plasma) S-Sulfocysteine inc (urine) S-Sulfocysteine inc (plasma) Sulfate dec (urine) Sulfite inc (urine) Sulfite oxidase dec (fibroblasts) Taurine inc (urine) Thiosulfate inc (urine) Xanthine inc (urine)
Symptoms	abnormal movement Amino acids, urine ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) chorea or athetosis developmental delay dislocated lens (ectopia lentis) early death encephalopathy enophthalmus epilepsy feeding difficulties, poor feeding hair, abnormal (thin, brittle, fine) hypertonia, spasticity hypotonia mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy onset, neonatal progressive neurologic defect psychomotor retardation seizures skin rash, eczematous or seborrhoic spastic diplegia/quadriplegia/tetraplegia strokelike episodes white matter changes, abnormalities