![]() In 2 females with a severe variant form of the disease, L-leucine oxidation was about 4% of control. In 4 patients with classic MSUD, L-leucine oxidation was too low to be measurable. (2001) determined whole-body L-leucine oxidation in MSUD patients. The authors determined that the defect was in the catalytic activity of the E1 component of the BCKD complex, but there was some residual enzyme activity. branched chain amino acid restriction resulted in normal growth and development by age 42 months, but thiamine was not effective. (1985) reported a boy with intermediate MSUD who presented at age 10 months in ketoacidotic coma, with a history of irritability, poor feeding, and growth and developmental delay. They noted that 2 similar cases with MSUD and ophthalmoplegia had previously been reported. (1979) reported a neonate who presented with ophthalmoplegia and was later found to have intermediate MSUD with residual BCKD complex activity. (1972) reported 2 patients with the intermediate form of MSUD manifesting as hyperkinetic behavior and mental retardation.Ĭhhabria et al. The patient had 15 to 25% residual BCKD activity in leukocytes and fibroblasts. Protein restriction was effective, but thiamine administration was not. She had mild systemic acidosis and markedly increased levels of plasma branched-chain amino acids and urinary branched-chain keto acids. ![]() She had normal physical growth but severe developmental delay. ![]() (1970) first described intermediate MSUD in a 19-month-old patient who was being evaluated for mental retardation. She was followed closely during a pregnancy, with delivery of a healthy baby whose length and weight were at the 5th centile. (1992) described a 25-year-old woman with classic MSUD who was diagnosed at the age of 11 days and was successfully treated with dietary restrictions. They concluded that prospective or early treatment significantly improves the intellectual outcome and that poor biochemical control may adversely affect performance. (1989) described psychometric testing on 9 girls and 7 boys with MSUD. The proposita had an acute neonatal form 2 of her sisters had an almost asymptomatic form which the authors thought represented compound heterozygosity for the classic mutant and a partial variant. (1985) observed a family in which 2 different forms of MSUD occurred in the same family. However, Shih (1984) emphasized that classic MSUD may be missed in newborn screening because of slow rise of blood leucine levels.įrezal et al. Although the branched-chain amino acids were normal in cord blood, serum leucine was significantly elevated by 4 to 14 hours of age and rose progressively thereafter, permitting an accurate and early diagnosis. (1982) made important observations on the course of classic MSUD in the first 4 days of life when an affected child was on a diet devoid of branched-chain amino acids. Seizures and coma usually occur, followed by death if untreated ( Chuang and Shih, 2001). The infants show lethargy, weight loss, metabolic derangement, and progressive neurologic signs of altering hypotonia and hypertonia, reflecting a severe encephalopathy. Affected newborns appear normal at birth, with symptoms developing between 4 and 7 days of age. In classic MSUD, which is the most common form of the disorder, 50% or more of the keto acids are derived from leucine, and the activity of the BCKD complex is less than 2% of normal. (1960) also referred to the disorder as 'branched-chain ketoaciduria.' Menkes (1959) isolated and identified the corresponding keto acids in the urine of affected patients, suggesting that the catabolic pathways of the branched-chain amino acids were blocked at the decarboxylation step. (1957) found that the levels of branched-chain amino acids, leucine, isoleucine, and valine, were greatly elevated. Referring to the syndrome as 'maple syrup urine disease,' Westall et al. The urine had an odor resembling maple syrup. Onset was in the first week of life, with death by 3 months of age. (1954) reported a familial syndrome in which 4 sibs had progressive infantile cerebral dysfunction associated with an unusual urinary substance. White matter signal abnormalities in various brain regions Hallucinations īrain MRI shows diffusion abnormalities
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |