Glutaric aciduria (type I): Prenatal ultrasonographic findings [3]

Ultrasound in Obstetrics and Gynecology

Volumn 20, Issue 3, 2002, Pages 305-307

  Lin, S K ^a   Hsu, S G ^a   Ho, E S C ^a   Tsai, C R ^a   Hseih, Y T ^a   Lo, F C ^a   Lai, H Y ^a   Chen, M H ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; GLUTARIC ACID;

ACIDURIA; AMNIOCENTESIS; ANAMNESIS; BIOCHEMISTRY; CASE REPORT; DYSTONIA; ECHOGRAPHY; EFFUSION; FEMALE; FETUS; FETUS OUTCOME; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPING; LETTER; MACROCEPHALY; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOCYST; SUBARACHNOID SPACE;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; GENES, RECESSIVE; GLUTARYL-COA DEHYDROGENASE; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0036381026     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2002.00779_3.x     Document Type: Letter

References (16)

1. Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Muller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27: 115-23
2. Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Muller E, Morton DH, Superti-Furga A, Hoffmann GF. Diagnosis and management of glutaric aciduria type I. J Inher Metab Dis 1998; 21: 326-40
3. Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JBC, Lawrenz-Wolf B, Doringer E, Weiss-Wichert P, Troger J, Colombo JP, Plochl E. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999; 29: 138-43
4. Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: unusual biochemical presentation. J Pediatr 1992; 121: 83-6
5. Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, Schwartz M. Compound heterozygo-sity in the glutaryl-CoA dehydrogenase gene with R227P mutation on the allele is associated with no or very low glutarate excretion. J Inher Metab Dis 1997; 20: 383-6
6. Merinero B, Perez-Cerda C, Font LM, Garcia MJ, Aparicio M, Lorenzo G, Martinez-Pardo M, Garzo C, Martinez-Bermejo A, Pascual-Castroviejo I. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1995; 26: 238-42
7. Busquets C, Coll MJ, Christensen E, Campistol J, Clusellas N, Vilaseca MA, Ribes A. Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi. J Inher Metab Dis 1998; 21: 243-6
8. Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 1997; 156: 821-8
9. Kyllerman M, Steen G. Glutaric aciduria: a common metabolic disorder? Arch Fr Pediatr 1980; 37: 279
10. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria: a new disorder of amnio acid metabolism. Biochem Med 1975; 12: 12-21
11. Hoffmann GF, Trefz FK, Barth PG, Bohles HJ, Lehnert W, Christensen E, Bremer HJ. Macrocephaly: an important indication for organic acid analysis. J Inher Metab Dis 1991; 14: 329-32
12. Hoffmann GF, Bohles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting B, Superti-Fugra A. Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inher Metab Dis 1995; 18: 173-6
13. Cho HC, Mamourian AC, Filiano J, Nordgren RE. Glutaric aciduria: improved MR appearance after aggressive therapy. Pediatr Radiol 1994; 25: 484-5
14. Altman NR, Roma MJ, Bauer M. Glutaric aciduria type I: MR findings in 2 cases. AJNR Am J Neuroradiol 1991; 12: 966-8
15. Iafolla AK, Kahler SG. Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. J Pediatr 1989; 114: 1004-6
16. Naidu S, Moser HW. Value of neuroimaging in metabolic diseases affecting the CNS. AJNR Am J Neuroradiol 1991; 12: 413-6