Methionine malabsorption syndrome

Introduction Methionine malabsorption syndrome, also known as oasthousedisease, Smith and Strang (1958) first reported that metabolic defects are dysfunction of methionine transfer in the intestine, which can also affect other amino acid metabolism, often in infancy, and mental retardation. The whole body hair is slender and light with episodes of breathing to accelerate fever and seizures, and there may be a state of full body straightness.

Cause

The cause is unknown. May be caused by abnormal methionine transport, the intestinal wall absorbs congenital defects of amino acids, causing methionine to stagnant in the intestine, decomposed into a-hydroxybutyric acid, absorbed into the blood and discharged through the urine.

an examination

Related inspection

Gastrointestinal CT examination of gastric ultrasound

Clinical manifestations: onset in infancy. Severe mental retardation, no response to stimuli, decreased muscle tone, and seizures. Repeated onset of systemic edema and shortness of breath, fever, abdominal pain, diarrhea, lighter skin, fine hair. There is a special beer smell in the urine.

Differential diagnosis

Differential diagnosis of methionine malabsorption syndrome:

1. Cystathioninuria (Cystathioninuria) was first reported by Harris et al. (1959). It is caused by cystathione deficiency, which is characterized by mental retardation, behavioral abnormalities, skeletal deformities (acromegaly) thrombocytopenia, and metabolic acidosis. Patients with a large amount of cystathionine in the urine may not have neurological symptoms and normal mental development. The disease can be treated with a large amount of vitamin B6 to obtain better curative effect.

2. Hypermethioninemia (Perry et al) (1965) first described that metabolic defects may occur in the same family due to lack of methionine adenosyltransferase activity, irritability, agitation, and gradual emergence within 2 months of birth. Drowsiness, epileptic seizures, boiled cabbage smell on the body surface, blood and urine methionine increased significantly, other types of sulfur-containing amino acids may also appear, the child usually survives for 2 to 3 months, and more than hemorrhagic complications.

3. Glutathioneuria, cysteine peptideuria -mercaptolactate-disulfide-cysteinuria (-mercaptolactate-disulfide-cysteinuria) are rare sulfur-containing amino acid metabolism defects, the main performance For the treatment of mental retardation and other neurological symptoms to limit the corresponding dietary intake.

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