PMID- 10519592
OWN - NLM
STAT- MEDLINE
DCOM- 19991018
LR  - 20141113
IS  - 0161-6420 (Print)
IS  - 0161-6420 (Linking)
VI  - 106
IP  - 10
DP  - 1999 Oct
TI  - Isolated sulfite oxidase deficiency: review of two cases in one family.
PG  - 1957-61
AB  - OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency 
      found in one family. This is a rare autosomal-recessive disorder presenting at
      birth with seizures, severe neurologic disease, and ectopia lentis. It can be
      easily missed with metabolic screening; however, the finding of lens subluxation 
      stresses the importance of ophthalmic assessment in making the diagnosis. DESIGN:
      Two observational case reports. INTERVENTION/METHODS: Ophthalmic assessment,
      biochemical assay for specific urinary and plasma metabolites, magnetic resonance
      imaging, and gene sequencing were used to make the diagnosis of the disease in
      the proband. The diagnosis was subsequently recognized in a previously affected
      sibling after the postmortem neuropathology was reviewed. Mutation analysis was
      performed on cultured fibroblasts from the proband to identify and categorize the
      specific mutation responsible for the disease in the family. From this, future
      prenatal detection of sulfite oxidase deficiency is possible. MAIN OUTCOME
      MEASURES: The diagnosis of sulfite oxidase deficiency was established in this
      family, enabling appropriate genetic counseling and recurrence risk estimation.
      RESULTS: Point mutations were found in both alleles of the sulfite oxidase gene
      in the proband. The first is a 623C-->A mutation, which predicts an A208D
      substitution, and the second is a 1109C-->A, which predicts an S370Y
      substitution. Both residues A208D and S370Y are critical for sulfite oxidase
      activity. CONCLUSIONS: Isolated sulfite oxidase deficiency is a rare heritable
      disease for which mutation analysis can allow accurate prenatal screening. It
      often is difficult to diagnose by clinical presentation alone, but the critical
      finding of lens subluxation accompanying seizures and diffuse neurologic disease 
      in an infant should alert the physician to the diagnosis.
FAU - Edwards, M C
AU  - Edwards MC
AD  - Department of Ophthalmology, University of Alberta, Edmonton, Canada.
FAU - Johnson, J L
AU  - Johnson JL
FAU - Marriage, B
AU  - Marriage B
FAU - Graf, T N
AU  - Graf TN
FAU - Coyne, K E
AU  - Coyne KE
FAU - Rajagopalan, K V
AU  - Rajagopalan KV
FAU - MacDonald, I M
AU  - MacDonald IM
LA  - eng
GR  - GM44283/GM/NIGMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Ophthalmology
JT  - Ophthalmology
JID - 7802443
RN  - EC 1.8.- (Oxidoreductases Acting on Sulfur Group Donors)
SB  - IM
MH  - Alleles
MH  - Cells, Cultured
MH  - DNA Mutational Analysis
MH  - Family
MH  - Fibroblasts/enzymology
MH  - Humans
MH  - Infant, Newborn
MH  - Lens Subluxation/diagnosis/enzymology/genetics
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Metabolism, Inborn Errors/diagnosis/*enzymology/genetics
MH  - Nervous System Diseases/diagnosis/enzymology/genetics
MH  - Oxidoreductases Acting on Sulfur Group Donors/*deficiency/*genetics
MH  - Pedigree
MH  - *Point Mutation
MH  - Seizures/diagnosis/enzymology/genetics
EDAT- 1999/10/16 00:00
MHDA- 1999/10/16 00:01
CRDT- 1999/10/16 00:00
PHST- 1999/10/16 00:00 [pubmed]
PHST- 1999/10/16 00:01 [medline]
PHST- 1999/10/16 00:00 [entrez]
AID - S0161-6420(99)90408-6 [pii]
AID - 10.1016/S0161-6420(99)90408-6 [doi]
PST - ppublish
SO  - Ophthalmology. 1999 Oct;106(10):1957-61. doi: 10.1016/S0161-6420(99)90408-6.