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Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance (1993)

DiRocco, M. ; Garibotto, G. ; Rossi, G. A. ; [et al.]

Springer

European journal of pediatrics 152 (1993), S. 437-440

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ISSN: 1432-1076

Keywords: Lysinuric protein intolerance ; Erythroblastophagocytosis ; Interstitial lung disease ; Renal disease

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01955906

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Diagnostic problems in congenital myotonic dystrophy (1996)

DiRocco, M. ; Gennarelli, M. ; Veneselli, E. ; [et al.]

Springer

European journal of pediatrics 155 (1996), S. 995-995

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ISSN: 1432-1076

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF02282900

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Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia (1999)

Stroppiano, M. ; Regis, S. ; DiRocco, M. ; [et al.]

Springer

Journal of inherited metabolic disease 22 (1999), S. 43-49

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Recent cloning of the G6Pase gene and the subsequent identification of several disease-causing mutations have shown an ethnic molecular heterogeneity. Using SSCP analysis and DNA sequencing, we characterized the G6Pase gene of 53 unrelated Italian patients. The two most common mutations, R83C and Q347X, accounted for 66.9% of the mutant alleles. Eight novel mutations and three rare mutations were identified in 15.7% of disease alleles. These results suggest that a DNA-based method can be used as an initial screening in Italian patients clinically suspected of having GSD1a, avoiding liver biopsy for enzymatic diagnosis. In particular, a noninvasive diagnosis is a suitable method for the Italian subpopulation coming from Sicily, where the R83C mutation is present in 80% of mutant alleles. Molecular carrier detection and prenatal diagnosis can be provided to GSD1a families with identified mutation in the propositus.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1023/A:1005495131118

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