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Related Concept Videos

Physical Properties of Amines01:26

Physical Properties of Amines

Amines with low molecular weight are usually gaseous at room temperature, while those with high molecular weight are liquid or solids in nature. Usually, low molecular weight amines have a rotten fish-like smell. Diamines typically have a pungent smell. For instance, cadaverine and putrescine, depicted in Figure 1, are two molecules responsible for decaying tissue.
Amines to Sulfonamides: The Hinsberg Test01:23

Amines to Sulfonamides: The Hinsberg Test

The Hinsberg test is a method to identify primary, secondary and tertiary amines, named after its pioneer, Oscar Hinsberg. Here, amines are treated with benzenesulfonyl chloride, also known as the Hinsberg reagent, in the presence of an excess of aqueous base, followed by acidification. Based on the nature of the amines, different changes are observed.
Generally, a primary amine reacts with the Hinsberg reagent to produce an N-substituted benzenesulfonamide. The electron-withdrawing sulfonyl...
Basicity of Heterocyclic Aromatic Amines01:25

Basicity of Heterocyclic Aromatic Amines

Heterocyclic amines, where the N atom is a part of an alicyclic system, are similar in basicity to alkylamines. Interestingly, the heterocyclic amine having a nitrogen atom as part of an aromatic ring has much less basicity than its corresponding alicyclic counterpart. For this reason, as presented in Figure 1, piperidine (pKb = 2.8) is significantly more basic than pyridine (pKb = 8.8).
Basicity of Aromatic Amines01:18

Basicity of Aromatic Amines

The basicity of aromatic amines is much weaker than that of aliphatic amines due to the involvement of the lone pair of electrons over the N atom in resonance with the aryl rings. Generally, the electron-donating ability of any substituents on the aryl ring of aromatic amines increases the basicity of the amine by increasing electron density, and hence the availability of lone pair on the nitrogen. On the other hand, electron-withdrawing functional groups on the aryl ring of amines decrease the...
Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
Mass Spectrometry of Amines01:15

Mass Spectrometry of Amines

In mass spectroscopy, amines undergo fragmentation to give parent ions with odd molecule weights. This observed mass spectrum follows the nitrogen rule; a molecule with an odd number of nitrogen atoms produces a molecular ion with an odd molecular weight. Amines undergo fragmentation through α cleavage, producing nitrogen-containing cations—iminium ions—and alkyl radicals. Mass spectra of aromatic and cyclic aliphatic amines exhibit strong molecular ion peaks, but acyclic aliphatic amines show...

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Updated: May 20, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Pseudoaminopterin syndrome.

Lilia Kraoua1, Yline Capri, Laurence Perrin

  • 1Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.

American Journal of Medical Genetics. Part A
|July 20, 2012
PubMed
Summary
This summary is machine-generated.

Pseudoaminopterin syndrome, a rare genetic disorder, presents with distinct features and limb anomalies. Research indicates it is not caused by simple vitamin deficiency or gene imbalance, suggesting complex pathogenesis.

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Area of Science:

  • Genetics and Developmental Biology
  • Rare Diseases
  • Clinical Dysmorphology

Background:

  • Pseudoaminopterin syndrome (ASSA syndrome) is a rare autosomal recessive disorder.
  • It is characterized by dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation.
  • Patients' phenotypes resemble those exposed to dihydrofolate reductase inhibitors like aminopterin or methotrexate during pregnancy.

Observation:

  • Ten patients with pseudoaminopterin syndrome have been previously described.
  • Phenotypic variability exists among affected individuals.
  • The phenotype differs from that caused by folic acid deprivation.

Findings:

  • A case of pseudoaminopterin syndrome in an Algerian patient is reported.
  • Review of existing cases and high-resolution CGH array analysis confirm the absence of detectable contiguous gene imbalance.
  • The pathogenesis of pseudoaminopterin syndrome appears more complex than simple vitamin deficiency.

Implications:

  • This study contributes to understanding the complex etiology of pseudoaminopterin syndrome.
  • It highlights the need for further research into the underlying molecular mechanisms.
  • Accurate diagnosis and genetic counseling are crucial for affected families.