tailieunhanh - THE PEDIATRICS CLERKSHIP - PART 3

Thiếu tiểu đơn vị khác nhau của tài khoản enzyme để biến đổi lâm sàng rộng. Nghèo cho ăn, nôn mửa trong tuần đầu tiên của cuộc sống, tiến tới hôn mê và hôn mê. Hypertonicity xen kẽ và flaccidity, co giật, hạ đường huyết. | Epidemiology In MSUD plasma leucine levels are usually higher than those of the other accumulating branched amino acids. Correcting the serum glucose level in MSUD does not improve the clinical state. Metabolic Disease rp---------------- Urinary proline hydroxyproline and arginine remain normal in Hartnup s disease unlike in other causes of generalized aminoaciduria such as Fanconi s . One in 290 000 live births. Signs and Symptoms Deficiency of different subunits of enzyme account for wide clinical variability. Poor feeding vomiting in first week of life proceeding to lethargy and coma. Alternating hypertonicity and flaccidity convulsions hypoglycemia. Odor of maple syrup in urine sweat cerumen. Diagnosis Elevated plasma and urine levels if leucine isoleucine valine and alloisoleucine decreased plasma alanine. Urine precipitant test. Neuroimaging in the acute state shows cerebral edema. Treatment Chronically low branched-chain amino acid diet Frequent serum level monitoring Acutely intravenous administration of amino acids other than branched-chain Hartnup s Disease Definition Inherited defect in transport of neutral amino acids by intestinal mucosa and renal tubules. Etiology Deficient activity of a sodium-dependent transport system. Pathophysiology Deficiency of tryptophan results in the clinical manifestations. Epidemiology Autosomal recessive. Signs and Symptoms Usually asymptomatic. Rarely cutaneous photosensitivity episodic psychiatric changes. Marginal nutrition results in clinical manifestations in predisposed individuals. Diagnosis Aminoaciduria neutral alanine serine threonine valine leucine isoleucine phenylalanine tyrosine tryptophan histidine Normal plasma amino acid levels Treatment Nicotinic acid nicotinamide and a high-protein diet in symptomatic patients. DEFECTS OF LIPID METABOLISM-LYSOSOMAL STORAGE DISEASES Lipidoses See Table 8-2. 86 TABLE 8-2. Lysosomal storage diseases lipidoses. Disease Deficiency Accumulation Feature Inheritance GM1 .