Growth hormone deficiency in a patient with lysinuric protein intolerance

European Journal of Pediatrics

Volumn 165, Issue 11, 2006, Pages 763-766

  Esposito, Valentina ^a   Lettiero, Teresa ^a   Fecarotta, Simona ^a   Sebastio, Gianfranco ^a   Parenti, Giancarlo ^a   Salerno, Mariacarolina ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Growth hormone deficiency; Lysinuric protein intolerance; Short stature

Indexed keywords

AMINO ACID TRANSPORTER; ARGININE; CITRULLINE; CLONIDINE; CORTICOTROPIN; ESTRADIOL; FOLLITROPIN; GROWTH HORMONE; LYSINE; PROTIRELIN; SOMATOMEDIN C;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; COMA; FAILURE TO THRIVE; FEMALE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENETIC CODE; GROWTH CURVE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HEPATOSPLENOMEGALY; HUMAN; LIGHT CHAIN; LYSINURIC PROTEIN INTOLERANCE; OSTEOPOROSIS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN INTOLERANCE; PROVOCATION TEST; SHORT STATURE; TREATMENT OUTCOME;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; LYSINE;

EID: 33748961805     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0170-8     Document Type: Article

References (15)

1. Alba-Roth J, Muller OA, Schopohl J, von Werder K (1988) Arginine stimulates growth hormone secretion by suppressing endogenous somatostatin secretion. J Clin Endocrinol Metab 67:1186-1189
2. Awrich AE, Stackhouse WJ, Cantrell JE, Patterson JH, Rudman D (1975) Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: treatment with arginine, lysine, and citrulline. J Pediatr 87:731-738
3. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 21:297-301
4. Goto I, Yoshimura T, Kuroiwa Y (1984) Growth hormone studies in lysinuric protein intolerance. Eur J Pediatr 141:240-242
5. Greulich WW, Pyle SI (1969) Radiographic atlas of skeletal development of the hand and wrist, 2nd edn. Stanford University Press, Stanford
6. Grottoli S, Gasco V, Ragazzoni F, Ghigo E (2003) Hormonal diagnosis of GH hypersecretory states. J Endocrinol Invest 26(10 Suppl):27-35
7. Knopf RF, Conn JW, Fajanss, Floyd JC, Guntsche EM, Rull JA (1965) Plasma growth hormone response to intravenous administration of amino acids. J Clin Endocrinol Metab 25:1140-1144
8. Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, Andria G (1995) Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course. J Pediatr 126:246-251
9. Santamaria F, Brancaccio G, Parenti G, Francalanci P, Squitieri C, Sebastio G, Dionisi-Vici C, D'Argenio P, Andria G, Parisi F (2004) Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr 145:268-272
10. Simell O (2001) Lysinuric protein intolerance and other cationic aminoacidurias. In: Scriver CH, Beaudet AL, Sly WS, Valle D (eds) Metabolic and molecular bases of inherited diseases. McGraw-Hill, New York, pp 4933-4956
11. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G (2000) Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 66:92-99
12. Tanner J, Whitehouse R (1976) Clinical longitudinal standards for height, weight, height velocity and weight velocity and stages of puberty. Arch Dis Child 51:170-179
13. Tanner J, Whitehouse R, Takaishi M (1965) Standards from birth to maturity for height, weight, height velocity and weight velocity: British children 1965. Arch Dis Child 41:613-635
14. Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacin M (1999) Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet 21:293-296
15. Wilson TA, Rose SR, Cohen P, Rogol AD, Backeljauw P, Brown R, Hardin DS, Kemp SF, Lawson M, Radovick S, Rosenthal SM, Silverman L, Speiser P (2003) Update of guidelines for the use of growth hormone in children: the Lawson Wilkins Pediatric Endocrinology Society Drug and Therapeutics Committee. J Pediatr 143:415-421