Methionine Malabsorption Syndrome

Clinical Features

Smith and Strang (1958) described a disorder, which they called oasthouse urine disease. The infant had white hair, hyperpnea, convulsions, and mental retardation. The urine had a characteristic and unique odor like that of an oasthouse (building for drying hops). Although phenylpyruvic acid was found in the urine, the odor was different from that of phenylketonuria. The defect was thought to concern the utilization of the alpha-keto acids of all essential amino acids as a result of which alpha-keto acids, their amino acid precursors or hydroxy acid derivatives accumulated in the blood and overflowed in the urine. The unusual odor was thought to be produced by alpha hydroxybutyric acid, but could be some other substance rather like it. Efron (1965) described the amino acid in the urine. No further cases had been discovered (Strang, 1963).

The case of Hooft et al. (1964) may have been the same disorder. The disorder seemed to combine the features of phenylketonuria (261600) and of methionine malabsorption. The ferric chloride test was positive. The case of Hooft et al. (1965) was in a girl with mental retardation, diarrhea, convulsions, tachypnea, blue eyes, and strikingly white hair. The manifestations in the patient described by Hooft et al. (1968) were diarrhea, convulsions, peculiar smell, and mental retardation. Both parents and 3 sibs showed abnormal excretion of alpha-hydroxybutyric acid after methionine load, a presumed manifestation of heterozygosity. Hooft et al. (1968) considered this disorder different from 'oasthouse disease' of Smith and Strang.