Related Experiment Video

Updated: Sep 2, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Sulphite oxidase deficiency--a report of two siblings

A Goh1, K W Lim

  • 1Department of Paediatrics, Tan Tock Seng Hospital, Singapore.

Singapore Medical Journal
|January 4, 1998
PubMed

Insights

Isolated sulphite oxidase deficiency, a rare autosomal recessive disorder, causes severe neurological issues and seizures. Prenatal diagnosis is possible through sulphite oxidase analysis in chorionic villus samples.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive metabolic disorder.
  • ISOD is characterized by neurological abnormalities, lens subluxation, and seizures.

Observation:

  • This report details two siblings with ISOD presenting at 6 months of age.
  • Clinical progression included severe mental retardation, spasticity, and intractable seizures.
  • One sibling also exhibited lens subluxation.

Findings:

  • Diagnosis is confirmed by elevated urinary sulphite and plasma S-sulphocysteine and thiosulphate levels.
  • No effective treatments are currently available for ISOD.
  • Prenatal diagnosis can be achieved via sulphite oxidase analysis of uncultured chorionic villus material.

Implications:

  • Early diagnosis and genetic counseling are crucial for affected families.
  • Understanding ISOD's biochemical pathways may reveal future therapeutic targets.
  • Prenatal diagnosis offers reproductive choices for families at risk.

More Related Videos

Single Oocyte Bisulfite Mutagenesis13:18

Single Oocyte Bisulfite Mutagenesis

Published on: June 27, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

Pyruvate Oxidation01:15

Pyruvate Oxidation

After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
Pedigree Analysis02:21

Pedigree Analysis

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
Pleiotropy01:47

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Preparation and Reactions of Sulfides02:26

Preparation and Reactions of Sulfides

Sulfides are the sulfur analog of ethers, just as thiols are the sulfur analog of alcohol. Like ethers, sulfides also consist of two hydrocarbon groups bonded to the central sulfur atom. Depending upon the type of groups present, sulfides can be symmetrical or asymmetrical. Symmetrical sulfides can be prepared via an SN2 reaction between 2 equivalents of an alkyl halide and one equivalent of sodium sulfide.
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Sulfur Assimilation01:20

Sulfur Assimilation

Sulfur is an essential element in biological systems, contributing to synthesizing key biomolecules, including amino acids such as cysteine and methionine, and cofactors such as coenzyme A and biotin. Microorganisms primarily assimilate sulfur as sulfate (SO₄²⁻) from the environment, which must undergo a series of biochemical transformations before it can be incorporated into cellular components. As sulfate is highly oxidized, it must undergo assimilatory sulfate reduction to become...