Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Histidinemia

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

Methylmalonic acidemia

Increased concentration of methylmalonic acid in the blood.

Total: 1

(per page)

PMID (PMCID)
2605319	MIXED_SAMPLE	Child
	Metabolic correlates of learning disability.
	Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Birth Defects Orig Artic Ser. 1989;25(6):153-69.
	Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.