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Related Concept Videos

Sulfur Assimilation01:20

Sulfur Assimilation

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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...
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Preparation and Reactions of Sulfides02:26

Preparation and Reactions of Sulfides

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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.
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Preparation and Reactions of Thiols02:33

Preparation and Reactions of Thiols

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Thiols are prepared using the hydrosulfide anion as a nucleophile in a nucleophilic substitution reaction with alkyl halides. For instance, bromobutane reacts with sodium hydrosulfide to give butanethiol.
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Glucose Transporters01:27

Glucose Transporters

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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.
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Pyruvate Oxidation01:15

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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+...
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Structure and Nomenclature of Thiols and Sulfides02:17

Structure and Nomenclature of Thiols and Sulfides

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Thiols and sulfides are sulfur analogs of alcohols and ethers, respectively, where the sulfur atom takes the place of the oxygen atom. Thus, thiols are generally represented as RSH, where R is an alkyl substituent and —SH is the functional group. On the other hand, in sulfides, the central sulfur atom is bonded to two hydrocarbon groups on either side. Depending upon the type of group, sulfides can be either symmetrical or asymmetrical. Both thiols and sulfides display a bent geometry,...
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Isolated sulfite oxidase deficiency.

Helena Claerhout1, Peter Witters2,3, Luc Régal4

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Isolated sulfite oxidase deficiency (ISOD) is a severe neurological disease. Early diagnosis through biochemical tests is crucial for distinguishing it from treatable conditions like molybdenum cofactor deficiency (MoCD).

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Isolated sulfite oxidase deficiency (ISOD) is a severe, life-threatening autosomal recessive disorder causing significant neurological impairment.
  • No effective long-term treatments exist for ISOD, necessitating accurate diagnosis and differentiation from other conditions like molybdenum cofactor deficiency (MoCD) type A.

Purpose of the Study:

  • To provide a comprehensive overview of clinical, neuroimaging, biochemical, and genetic findings in ISOD patients.
  • To aid in distinguishing ISOD from other treatable metabolic disorders.

Main Methods:

  • Literature review of 47 ISOD patients, analyzing clinical, laboratory, and radiological data.
  • Review of published SUOX gene mutations aligned to a reference sequence.
  • Analysis of diagnostic markers including sulfite, S-sulfocysteine, homocysteine, amino acids, uric acid, and oxypurines.

Main Results:

  • ISOD onset typically occurs within the first 72 hours of life (57%) or by one year of age (96%).
  • All patients exhibited neurological abnormalities, including hypotonia, seizures, and developmental delay; feeding difficulties were also common.
  • Biochemical markers like plasma homocysteine, plasma/urine amino acids, and urine sulfite support ISOD diagnosis, while uric acid and urine oxypurines help rule out MoCD.

Conclusions:

  • Accurate diagnosis of ISOD is critical due to the lack of effective treatments and the need to exclude other conditions.
  • Biochemical testing, including specific amino acid and sulfite measurements, is essential for diagnosing ISOD.
  • Neuroimaging consistently reveals brain abnormalities in ISOD patients, further supporting diagnosis.