Kromozom Bozukluğu ile Birlikte Fenilketonüri Vakası

Year 1969, Volume: 22 Issue: 4, 873 - 879, 31.12.1969

Bahtiyar Demirağ

Abstract

1,5 yaşında fenilketonüri tanısı konmuş ve Lofenalac diyeti uygulanan bir bebek 1 yıl süreyle izlenmiştir. Takip sürecinin ardından, 9 yaşında gelişme geriliği, inmemiş testisler ve hipoplazik penis şikayetleri ile tekrar başvuran bu bebekte periferik kan örneği alınarak karyotip muayenesi yapılmıştır. Karyotipte 46, XY kromozom yapısına rağmen Y kromozomunun normalden büyük olduğu tespit edilmiştir. Bu vak’a, fenilketonüri ve kromozom düzensizliği arasında bir asosiasyon gösterdiği bilinen ilk örnek olma özelliğini taşımaktadır.

Keywords

Fenilketonüri, Kromozom Düzensizliği, Karyotip

A Case of Phenylketonuria with Chromosomal Disorder

Abstract

A 1.5-year-old baby diagnosed with phenylketonuria was put on a Lofenalac diet and followed for one year. Later, at the age of 9, the child was re-evaluated due to developmental delay, undescended testes, and hypoplastic penis. A peripheral blood sample was taken, and a karyotype analysis was performed. Despite having a normal 46, XY karyotype, it was found that the Y chromosome was larger than normal. This case is the first known association between phenylketonuria and chromosomal abnormalities.

Keywords

Phenylketonuria, Chromosomal Abnormalities, Karyotype

References

• 1. BERRY, H. K., SUTHERLAND, B. & UMBARGER, B.: Diagnosis and Treatment Interpretation of Results of Blood Screening Studies for Detection of Phenylketonuria. Pediatrics, 37: 102, 1966.
• 2. CENTERWALL, W. R., CENTERWALL, B. A.: Phenylketonuria, An Inherited Metabolic Disorder Associated With Mental Retardation. Children's Bureau Publication. U.S. Dept. of Health Education, and Welfare No. 388, 1965.
• 3. CARPENTER, G. G., ANERBACH, V. H., DIGEORGE, A. M.: Phenylalaninemia. Pediatric Clinics of North America (Recent Clinical Advances), 15: 314, 1968.
• 4. DEMİRAĞ, B., ÇETİN, T.: Phenylketonuria'da Lofenalac Tatbikinın Neticeleri. Pediatr, 56: 10, 1962.
• 5. EFRON, M. L., AMPOLA, M. G.: The Aminoacidurias. Ped. Clin. of North America (Pediatric Neurology), 14: 881, 1967.
• 6. FISCH, R. O., WALKER, W. A., ANDERSON, J. A.: Prenatal and Postnatal Developmental Consequences of Maternal Phenylketonuria. Pediatrics, 37: 979, 1966.
• 7. GARRARD, S. D.: On the Diagnosis of Syndromes in Mental Retardation. Ped. Clinics of North America (Mental Retardation), 15: 931, 1968.
• 8. KANG, E. S., KENNEDY, J. L. Jr., GATES, L., BURWASH, J., MCKINNON, A. N.: Clinical Observations in Phenylketonuria. Pediatrics, 85: 932, 1965.
• 9. MABRY, G. C. C., DENNISTON, J. C., COLDWELL, J. G.: Mental Retardation in Children of Phenylketonuric Mothers. New England J. Med., 216: 1331, 1966.
• 10. MENKES, J. H., AEBERHARD, E.: Maternal Phenylketonuria. J. of Pediatrics, 74: 924, 1969.
• 11. PATAU, K.: Identification of Chromosomes. In Human Chromosome Methodology, s. 155. Editor: Yunis, J. J. Academic Press, New York - London, 1965.
• 12. WAISMAN, H. A.: Some Newer Inborn Errors of Metabolism. Ped. Clin. of North America (Recent Clinical Advances), 13: 469, 1966.