Adipose fatty acid composition in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.
نویسنده
چکیده
The fatty acid composition of the triglyceride in adipose tissue in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation was analyzed and compared with age-matched controls. The proportions of linoleic acid, linolenic acid and arachidonic acid were decreased to less than half of normal level. There was a decrease in total unsaturated fatty acids and an increase in palmitic acid. These results revealed an undeveloped pattern of fatty acid composition in adipose tissue in the patient.
منابع مشابه
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II.
Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RC...
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A patient in Kurobe, Japan, was previously reported to have a new class of hereditary methemoglobinemia, type III. In this patient, NADH cytochrome b5 reductase deficiency was observed in lymphocytes and platelets as well as in erythrocytes, but this was not associated with mental retardation. A base change was identified in the gene for NADH cytochrome b5 reductase, causing an amino acid subst...
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Recessive congenital methemoglobinemia (RCM) due to NADH-cytochrome b5 reductase (cytblr) deficiency leads to two different types of diseases. In the type I form, cyanosis is the only symptom, and the soluble enzyme is defective in red blood cells. In the type II form, cyanosis is associated with severe mental retardation and neurologic impairment; the enzymatic defect is systemic, involving b...
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عنوان ژورنال:
- The Tohoku journal of experimental medicine
دوره 140 4 شماره
صفحات -
تاریخ انتشار 1983