Preferred Label : Methionine malabsorption syndrome;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Smith-strang disease; Oasthouse urine disease;
Description : 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 have 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. They considered this disorder different
from 'oasthouse disease' of Smith and Strang. *FIELD* SA Jepson et al. (1958) *FIELD*
RF 1. Efron, M. L.: Aminoaciduria. New Eng. J. Med. 272: 1058-1067 and 1107-1113,
1965. 2. Hooft, C.; Carton, D.; Snoeck, J.; Timmermans, J.; Antener, I.; Van der Hende,
C.; Oyaert, W.: Further investigations in the methionine malabsorption syndrome. Helv.
Paediat. Acta 23: 334-349, 1968. 3. Hooft, C.; Timmermans, J.; Antener, I.; Oyaert,
W.; Van der Hende, C. H.: Methionine malabsorption syndrome. Ann. Paediat. 205: 73-104,
1965. 4. Hooft, C.; Timmermans, J.; Snoeck, J.; Antener, I.; Oyaert, W.; Van der Hende,
C. H.: Methionine malabsorption in a mentally defective child. Lancet 284: 20 only,
1964. Note: Originally Volume II. 5. Jepson, J. B.; Smith, A. J.; Strang, L. B.: An
inborn error of metabolism with urinary excretion of hydroxyacids, ketoacids and aminoacids.
(Letter) Lancet 272: 1334-1335, 1958. Note: Originally Volume II. 6. Smith, A. J.;
Strang, L. B.: An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric
acid and phenylpyruvic acid. Arch. Dis. Child. 33: 109-113, 1958. 7. Strang, L. B.:
Personal Communication. 1963. *FIELD* CS Misc: Urine odor of oasthouse (building
for drying hops);
Inheritance : Autosomal recessive;
Prefixed ID : %250900;
Origin ID : 250900;
UMLS CUI : C0268622;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
