CLINICAL AND BIOCHEMICAL OBSERVATIONS ON AN APPARENTLY NONFATAL VARIANT OF BRANCHEDCHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE)

[摘要] A previously healthy female child first developed episodes of ataxia, lethargy and semicoma following otitis media at the age of 16 months. Subsequently she had a convulsion, and ventriculograms were taken. The attacks, lasting 1 to 4 days, recurred several times over a 12-month period. During these attacks, it was noted that the urine of the patient had an odor resembling that of maple syrup. Biochemical studies revealed that at intermittent intervals she excreted abnormally large amounts of keto acids. However, when the patient was asymptomatic, the urinary pattern of keto acids was indistinguishable from that of the control subjects. The late onset and the episodic nature of the disease, as well as the fact that the physical and mental development of the child have progressed normally to the present age of 41 months, indicate that this case may represent the first reported variant of the previously reported cases of maple syrup urine disease.

[学科分类] 儿科学