Serum copper oxidase absorbance decreased

Introduction Decreased serum copper oxidase absorbance is an important manifestation of mental disorders associated with hepatolenticular degeneration. The autosomal recessive monogenic genetic disease has a positive family history of about 20% to 30% of the majority of the siblings. It was found that there are at least 25 mutations in its gene, which are located on chromosome 13. As for the genetic defects or structural genes that have not yet been identified, the literature reports that the incidence of close relatives is higher but controversial. The pathological changes were mainly in the lenticular nucleus, and the cerebral cortex was also damaged. The pathological sections showed that the nucleus and caudate nucleus neurons were degenerated or disappeared, and they were replaced by astrocytes. If the copper is deposited in a large amount in the liver, hepatic enlargement, acute or chronic hepatitis and cirrhosis, and liver atrophy may occur.

Cause

Causes of decreased copper oxidase absorbance

The autosomal recessive monogenic genetic disease has a positive family history of about 20% to 30% of the majority of the siblings. It was found that there are at least 25 mutations in its gene, which are located on chromosome 13. As for the genetic defects or structural genes that have not yet been identified, the literature reports that the incidence of close relatives is higher but controversial.

Because the lack of ceruloplasmin in patients cannot bind to copper, a large amount of copper is deposited in the liver (negative nucleus), cornea and kidney, leading to copper metabolism disorders and causing a series of visceral function and tissue damage; the most common site is Brain basal ganglia, cerebellum, cerebral cortex, cornea, liver, kidney, etc. The pathological changes were mainly in the lenticular nucleus, and the cerebral cortex was also damaged. The pathological sections showed that the nucleus and caudate nucleus neurons were degenerated or disappeared, and they were replaced by astrocytes. If the copper is deposited in a large amount in the liver, hepatic enlargement, acute or chronic hepatitis and cirrhosis, and liver atrophy may occur.

an examination

Related inspection

Adrenal cortical imaging CT examination of the brain

Examination of serum copper oxidase absorbance reduction

1. Evidence of organic damage

1) Brain lesions, liver lesions.

2) Age of onset and clear genetic history.

3) Increased muscle tone, tremor, corneal KF ring, etc.

2. Mental symptoms

(1) Intelligent damage is progressively aggravated.

(2) emotional disorders and personality changes.

3. Laboratory inspection

(1) Serum ceruloplasmin and blood copper decreased, urinary copper and liver copper increased, and serum copper hydrogenase decreased.

(2) liver function damage SGPT, ZnTTT, etc. increased.

(3) Brain CT and MRI examination showed a low density change in the basal ganglia.

Differential diagnosis

Serum copper oxidase absorbance reduces confusing symptoms

Mental disorders: disorders associated with ictal: mental disorders at the time of onset include psychomotor seizures, paroxysmal affective disorders, and transient schizophrenia-like episodes. Also known as psychomotor seizures or temporal lobe epilepsy can be a precursor or can occur separately. It is more common in cortical lesions, and the various symptoms at the time of onset are determined by the location of the lesion. Most lesions are in temporal lobe, and some are in frontal or marginal lobe. It is a transient psychiatric experience at the time of onset, and is often accompanied by a disturbance of consciousness.

Extrapyramidal symptoms, corneal pigment ring and decreased serum copper oxidase absorbance are the key criteria for the diagnosis of this disease. In addition, liver disease history or liver disease, urinary copper increased (> 50g) also has diagnostic significance; and brain CT and MRI examination for auxiliary diagnosis reference.

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