S-adenosylhomocysteine hydrolase deficiency: Two siblings with fetal hydrops and fatal outcomes

Journal of Inherited Metabolic Disease

Volumn 33, Issue 6, 2010, Pages 705-713

  Grubbs, Randall ^a   Vugrek, Oliver ^b   Deisch, Jeremy ^c   Wagner, Conrad ^d   Stabler, Sally ^e   Allen, Robert ^e   Barić, Ivo ^f   Rados, Marko ^g   Mudd, S Harvey ^h  

^a Pediatrix Medical Group of Texas   (United States)

^b RUDER BO KOVI INSTITUTE   (Croatia)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d VANDERBILT UNIVERSITY   (United States)

^e UNIVERSITY OF COLORADO   (United States)

^f UNIVERSITY OF ZAGREB   (Croatia)

^g KBC Zagreb   (Croatia)

^h NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSYLHOMOCYSTEINASE; AMINOTRANSFERASE; ARGININE; ASPARTIC ACID; CEFTRIAXONE; CYSTEINE; FIBRINOGEN; GLYCINE; METHIONINE; METOCLOPRAMIDE; S ADENOSYLMETHIONINE; THREONINE;

ADENOSINE DEAMINASE DEFICIENCY; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASCITES FLUID; CASE REPORT; CHILD DEATH; DIET SUPPLEMENTATION; DISEASE EXACERBATION; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FEEDING DISORDER; FEMALE; FETUS HYDROPS; FETUS OUTCOME; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOALBUMINEMIA; INFANT; MUSCLE HYPOTONIA; NEUROIMAGING; PARTIAL THROMBOPLASTIN TIME; PLEURA EFFUSION; PROTEIN RESTRICTION; PROTHROMBIN TIME; PSEUDOMONAS PNEUMONIA; RESPIRATORY FAILURE; SIBLING; STREPTOCOCCUS PNEUMONIA; THORAX DRAINAGE; THROMBOCYTE COUNT; VOMITING; FATALITY; GENETICS; INBORN ERROR OF METABOLISM; MORTALITY; NEWBORN;

ADENOSYLHOMOCYSTEINASE; FATAL OUTCOME; FEMALE; HUMANS; HYDROPS FETALIS; INFANT; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; SIBLINGS;

EID: 79952545168     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9171-x     Document Type: Article

References (17)

1. 6-nonresponsive homocystinuria. Metabolic Currents 5:13-16
2. Ando H, Mizutani A, Matsu-ura T, Mikoshiba K (2003) IRBIT, a novel inositol 1, 4, 5-triphosphate (IP3) receptor-binding protein, is released from the IP3 receptor upon IP3 binding to the receptor. J Biol Chem 278:10602-10612 (Pubitemid 36800330)
3. Arredonondo-Vega FX, Charlton JA, Edwards YH, Hopkinson DA, Whitehouse DB (1989) Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY). Ann Hum Genet 53:157-167 (Pubitemid 19148515)
4. Augoustides-Savvopoulou P, Luka Z, Karyda S et al (2003) Glycine N-methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis 26:745-759 (Pubitemid 38139376)
5. Baric I, Fumic K, Glenn B et al (2004) S-Adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 101:4234-4239 (Pubitemid 38405912)
6. Baric I, Cuk M, Fumic K et al (2005) S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index case, and outcomes during therapy. J Inherit Metab Dis 28:885-902 (Pubitemid 43168925)
7. Brosnan JT, Brosnan ME (2006) The sulfur-containing amino acids: an overview. J Nutr 136:1636S-1640S
8. Buist NRM, Glenn B, Vugrek O et al (2006) S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man. J Inherit Metab Dis 29:538-545 (Pubitemid 44193268)
9. Clarke S, Banfield K (2001) S-Adenosylmethionine-dependent methyltransferases. In: Carmel R, Jacobsen DW (eds) Homocysteine in health and hisease. Cambridge University Press, Cambridge, pp 63-78
10. Cuk M, Lovric M, Fumic K et al (2007) The fourth S-adenosylhomocysteine hydrolase deficient patient: Further evidence of congenital myopathy. Clin Chem Lab Med 45:A43
11. Dekker JW, Budhia S, Angel NZ et al (2002) Identification of an S-adenosylhomocysteine hydrolase-like transcript induced during dendritic cell differentiation. Immunogenetics 53:993-1001 (Pubitemid 34275762)
12. Gomi T, Takusagawa F, Nishizawa M et al (2008) Cloniing, bacterial expression, and unique structure of adenosylhomocysteine hydrolase-like protein 1, or inositol 1, 4, 5-triphosphate receptor-binding protein from mouse kidney. Biochim Biophys Acta 1784:1786-1794
13. Katz JE, Dlakic M, Clarke S (2003) Automated identification of putative methyltransferases from genomic open reading frames. Mol Cell Proteomics 2:525-540
14. x) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene. EMBO J 13:1806-1816
15. Mudd SH, Cerone R, Schiaffino MC et al (2001) Glycine Nmethyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninemia. J Inherit Metab Dis 24:448-464 (Pubitemid 32894514)
16. Robinson AJ, Goldstein R (2007) The cisterna magna septa. Vestigial remnants of Blake's pouch and a potential new marker for normal development of the rhombencephalon. J Ultrasound Med 26:83-95 (Pubitemid 46080080)
17. Vugrek O, Beluzic R, Nakic N, Mudd SH (2009) S-Adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome. Hum Mutat 30:E555-E565