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Summary

Disease	3-HYDROXYDICARBOXYLIC ACIDURIA
OMIM	--- OMIM = Online Medalian Inheritance of Men
Orphanet	---
Gene locus	unknown Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
Summary	increased urinary excretion of 3-hydroxydicarboxylic acids - Wolcott-Rallison syndrome - Thanatophoric dysplasia - Glycogen storage disease, - HIV

symptoms

cardiomyopathy

early death

liver failure

onset, adolescent

onset, childhood

onset, infancy

onset, neonatal

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
3-Hydroxydicarboxylic acid					mmol/mol creatinine	urine

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Shneider BL	et al.	Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis	J Pediatr		124	2	234-238	1994
Treacy E	Pitt J, Eggington M, Hawkins R	Dicarboxylic aciduria, significant and prognostic indications	Eur J Pediatr		153	0	918	1994
Clayton PT		Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis letter	J Pediatr		125	0	845-846	1994
Bothwell TH	Charlton RW, Motulsky AG	Hemochromatosis	The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.		3	0	2237-2269	1995
Wisser J	et al.	Neonatal hemochromatosis: a rare cause of nonimmune hydrops fetalis and fetal anemia	Fetal Diagn Ther		8	4	273-278	1993
Kimura C	et al.	2,4-Dienoyl-CoA reductases: from discovery toward pathophysiological significance	Nippon Rinsho		62	8	1577-1583	2004
Hayes AM	et al.	Neonatal hemochromatosis: diagnosis with MR imaging	AJR Am J Roentgenol		159	3	623-625	1992
Saudubray JM,	Specola N, Middleton B, Lombes A, Bonnefont JP, Jacobs C, Vassault A, Charpentier C	Hyperketotic states due to inherited defects of ketolysis	4th International congress of inborn errors of metabolism		0	0		1986