Type I hyperprolinemia

Indian Journal of Pediatrics

Volumn 67, Issue 7, 2000, Pages 541-543

  Shivananda, ^a   Christopher, Rita ^b   Kumar, Prem ^a  

^a Vani Vilas Children's Hospital   (India)

^b NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Hyperprolinemia; Proline oxidase; Prolinuria

Indexed keywords

PROLINE DEHYDROGENASE;

ARTICLE; CASE REPORT; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; RECURRENT DISEASE; SEIZURE;

FEMALE; HUMANS; INFANT; METABOLISM, INBORN ERRORS; PROLINE OXIDASE; RECURRENCE; SEIZURES;

EID: 0034222514     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02760491     Document Type: Article

References (10)

1. Phang JM, Scriver CR. Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AC, Sly WL, Valle D, eds. The Metabolic Basis of Inherited Diseases USA; McGraw-Hill, Inc., 1989; 577-597.
2. Goodwin JF. Standard Methods of Clinical Chemistry. MacDonald RP, ed. New York; Academic Press, 1970; 891-895
3. Efron ML. Familial hyperprolinemia report of a second case associated with congenital manifestations, hereditary hematuria and mild mental retardation with demonstration of an enzyme defect. N Engl J Med 1965; 272: 1243.
4. Fusco G, Carlomagno S, Remano A et al. Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues. Ophthalmologica 1976; 173: 1-3.
5. Scriver CR, Schafer IA, Efron ML. New renal tubular amino acid transport system and a new hereditary disorder of amino acid metabolism. Nature 1961; 192: 672.
6. Piesowicz AT. Hyperprolinemia. Arch Dis Child 1968; 43: 748.
7. Woody NC, Snyder C, Harris JA. Hyperprolinemia: Clinical and biochemical family study. Pediatrics 1969; 44: 554.
8. Dodinval P, Willems A, Heusden A, Hainaut H, Gottschalk CH. Clearance renales des acides amines chez un infant hyperprolinemique. J Genet Hum 1969; 17: 297.
9. Oyanagi K, Tsuchiyama A, Itakura Y et al. Clinical, biochemical and enzymatic studies in Type I hyperprolinemia associated with chromosomal abnormality. Tohoku Journal of Medicine 1987; 151: 465-475.
10. Ishikawa Y, Kameda K, Okabe M, Imai, T, Negaoka M, Minami R. A case of Type I hyperprolinemia associated with photogenic epilepsy. No to Hattatsu 1991; 23: 81-86.