Folic acid non-dependent formiminoglutamic aciduria in two siblings

Niederwieser, A.; Giliberti, Paolo; Matasović, A.; Pluznik, S; Steinmann, B; Baerlocher, K

doi:10.1016/0009-8981(74)90248-4

Cited by 28 publications

(11 citation statements)

References 39 publications

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“…Hyper-Figlu-uria in the present family appears to be autosomal recessively inherited. The clinical consequences are relatively benign, as has also been reported before (Niederwieser et al 1974;Beck et al 1981;Duran et al 1981).…”

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confidence: 59%

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Formiminoglutamic/hydantoinpropionic aciduria in two siblings

Durán

Dorland

Meuleman

et al. 1993

J of Inher Metab Disea

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Case Report 155 REFERENCES Gibson KM, Breuer J, Nyhan WL (1988a) 3-Hydroxymethylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 148: 180-186. Gibson KM, Breuer J, Kaiser K et al (1988b) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J lnher Metab Dis 11: 76-87. Leupold D, Bojasch M, Jacobs C (1982) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis. Eur J Pediatr 138: 73-76. J. Inher. Metab. Dis. 16 (1993) 155-156 -Folic acid non-dependent excessive formiminoglutamic aciduria (Figlu-uria) is an extremely rare disorder: only a handful of patients have been reported (Niederwieser et al 1974; Beck et al 1981; Duran et al 1981). The clinical presentations were somewhat variable, including features such as mild developmental delay .and seizures. Several biochemically affected subjects appeared to be symptom free. The index patient, a girl, was referred to the hospital at the age of 10 weeks when she had a 4-minute episode of neurological dysfunction with hypertonicity and breath holding. A similar attack had occurred 4 weeks previously. Epilepsy was unknown in the family and no precipitating circumstances could be traced. An EEG was normal. Haematological investigations did not reveal abnormalities; in particular, megaloblastic changes were absent (Hb 6.6 mmol/L, MCV 77 fl). Serum folate was increased: 65.6nmol/L (controls 7-23). Screening for inherited metabolic disorders by twodimensional thin-layer chromatography of urinary amino acids (Duran et al 1981) revealed a large spot in the position of glutamic acid. Quantitative analysis of amino acids with an LKB Alpha-plus amino acid analyser showed a normal excretion of glutamate. Pretreatment of the urine with an equal volume of 2 mol/L ammonia at room temperature for 4 hours caused a sharp rise of the glutamate concentration. The difference between these two values represented the Figlu concentration: 756 #mol/L; 525 #mol/mmol creatinine. Analysis of urinary organic acids disclosed only a trace of hydantoin-5-propionic acid (HPA): 11 #mol/L. In vivo histidine metabolism was tested by oral loading with 100 mg/kg L-histidine and measuring the 24-hour urinary excretion of Figlu and HPA. This resulted in a peak Figlu excretion of 6500 #mol/L and HPA excretion of 2130 #mol/L. The 24-hour metabolite excretion 1University Children's Hospital, 'Het Wilhelmina Kinderziekenhuis', Nieuwe Gracht 137, NL-3512 LK Utrecht; 2Antonius Ziekenhuis,

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confidence: 59%

“…Folic acid non-dependent excessive formiminoglutamic aciduria (Figlu-uria) is an extremely rare disorder: only a handful of patients have been reported (Niederwieser et al 1974;Beck et al 1981;Duran et al 1981). The clinical presentations were somewhat variable, including features such as mild developmental delay .and seizures.…”

mentioning

confidence: 99%

Formiminoglutamic/hydantoinpropionic aciduria in two siblings

Durán

Dorland

Meuleman

et al. 1993

J of Inher Metab Disea

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“…Lastly, two pairs of sibs spontaneously excreting excessive amounts of FIGLU are known (Niederwieser et al, 1974;Perry et al,, 1975). These patients were all normal or showed only slightly impaired cerebral function.…”

Section: Discussionmentioning

confidence: 99%

“…Excretion of formiminoglutamic acid (FIGLU) in urine has been described in ten patients, among whom were three pairs of sibs (Arakawa et al, 1963(Arakawa et al, , 1965(Arakawa et al, , 1968a(Arakawa et al, , 1968b(Arakawa et al, , 1972Niederwieser et al, 1974;Perry et al, 1975).…”

mentioning

confidence: 99%

Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease

Beck

Christensen

Brandt

et al. 1981

J of Inher Metab Disea

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A 2-year-old boy excreted massive amounts of formiminoglutamic acid in urine. The substance was identified as authentic formiminoglutamic acid by two-dimensional thin-layer chromatography, column chromatography and enzymatic determination. After alkaline hydrolysis the substance was converted to glutamic acid. Serum amino acid concentrations were normal. The patient had normal serum and erythrocyte folate levels. The red blood cell picture was normal. The leukocytes showed slight hypersegmentation. From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded. Glutamate formiminotransferase deficiency is postulated. The findings lend support to the theory of glutamate formiminotransferase deficiency being a rather benign disorder of metabolism.

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“…Mild mental retardation occurred only in one of the two sisters. Attempts to assess enzyme activity on erythrocyte lysates proved unsuccessful, and no liver biopsies were performed (Niederwieser et al, 1974).…”

Section: Glutamate Formiminotransferase Deficiencymentioning

confidence: 99%