Selected inherited disorders

Table 81.1

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Disorder	Main feature
Acute intermittent porphyria	The porphyrias are disorders of haem biosynthesis. The acute porphyrias which present with abdominal pain and neurological features all have increased urinary porphobilinogen during an attack, and this is diagnostic
Adrenoleucodystrophy	This rare neurodegenerative disease is characterized by the impaired metabolism and subsequent accumulation of long chain fatty acids in plasma and tissues, and adrenal insufficiency
Agammaglobulinaemia	There is a complete absence of immunoglobulin production. Selective IgA deficiency is more common with affected children presenting with recurrent respiratory infections
Alpha-1-antitrypsin deficiency	Patients with deficiency of the protease inhibitor, alpha-1-antitrypsin, may present with liver disease in childhood or with pulmonary emphysema in adults. All patients with genotypes associated with low alpha-1-antitrypsin in the serum are likely to develop emphysema if they smoke or are exposed to environmental pollutants
Biotinidase deficiency	A failure of biotin recycling results in an organic aciduria, developmental delay, seizures, alopecia, hypotonia and hearing loss
Congenital adrenal hyperplasia	This name is given to disorders of the enzymes involved in steroid hormone biosynthesis. The most common is lack of the 21-hydroxylase on the pathways which lead to cortisol and aldosterone synthesis (pp. 94–95)
Cystic fibrosis