## Abstract Steroid 21βhydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17βhydroxyp
β¦ LIBER β¦
Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients
β Scribed by Mitsuaki Ishihara; Tadao Iwasaki; Makoto Nagano; Jun Ishii; Mayumi Takano; Takeshi Kujiraoka; Masahiro Tsuji; Hiroaki Hattori; Mitsuru Emi
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 266 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1435-232X
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Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating ReyeΒ΄s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R