Diseases hereditary

Inflammatory bowel disease (ulcerative colitis and Crohn s disease) Hereditary/Genetic... 

Optic nerve atrophy Patients with early Leber disease (hereditary optic nerve atrophy) treated with cyanocobalamin suffer severe and swift optic atrophy. 

Key words Motor neuron diseases, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), peripheral neuropathies, Charcot-Marie-Tooth diseases, hereditary motor and/or sensory neuropathies (HSMNs), congenital myasthenic syndromes, neuromuscular junction, muscular dystrophies, Duchenne s disease. 

Demers, SJ., Russo, R, Lettre, F., Tanguay, R.M. Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum. Pathol. 2003 34 1313-1320... 

The transmembrane transport of iron into eukaryotic cells was not well defined when these studies began. In fact, a eukaryotic iron transporter had not yet been identified. Even within the well-characterized manunalian transferrin-dependent iron transport system, the mechanism of transmembrane iron transport from the endosomal lumen into the cytosol was unknown [6]. It is important to characterize eukaryotic iron transport since disruption of iron homeostasis in humans results in disease. Anemia, due to iron deficiency is a serious health problem [7]. In addition, the common genetic disease hereditary hemochromatosis results, excess iron absorption from the gut which causes iron overload [8]. The excess iron accumulates... 

Schapira, A. H. Mitochondrial involvement in Parkinson s disease, Huntington s disease, hereditary spastic paraplegia and Friedreich s ataxia. 1410(2),... 

D op a-responsive dystonia (DRD) Autosomal dominant GTPCH deficiency (Segawa disease, hereditary progressive dystonia) liver, brain, kidney, lymphocytes 14q22.1--22.2 600225... 

Groen, j. j. Gaucher s disease. Hereditary transmission and racial distribution. Arch, intern. Med. 113, 453 (1964). 

Abnormalities suggestive of deranged cyanide emd vitamin Bi2 metabolism have been demonstrated in Leber s disease (hereditary optic atrophy) and in dominantly inherited optic atrophy, and consist of significant elevations of pleisma cyanocobalamin [56]. Similar changes have been reported in sporadic cases of bilateral optic atrophy occurring in Europeans, and in cases of so-called tobacco amblyopia. 

C. Excreted in the urine in the rare hereditary disease alkaptonuria. Homogentisic acid is easily oxidized in the air to dark-coloured polymeric products, so that urine from patients with alkaptonuria turns gradually black. It is formed from tyrosine and is an intermediate in tyrosine breakdown in the body. Alkaptonuria is due to the absence of the liver enzyme which cleaves the aromatic ring. 

Primary immunodeficiencies are uncommon, and may occur in 1 in 10,000 individuals (6). Many primary immunodeficiencies are hereditary and congenital, and first appear in infants and children. Primary immunodeficiencies are classified into four main groups (7) relating to the lymphocytes (B-ceUs, T-ceUs, or both), phagocytes, or the complement cascade (8). Primary deficiency diseases result from B-ceU defects in 50% of cases, from T-ceU defects in ca 10%, and from combined B- and T-ceU defects in ca 20%. Phagocytic disorders account for 18% and complement defects occur in 2% of all cases. 

Pseudohypoparathyroidism is characterized by end-organ resistance to parathyroid hormone (98,108). This disease takes various forms, including Albright s hereditary osteodystrophy, which has unusual physical features and a generalized resistance to G-protein-linked hormones that function through cAMP as a second messenger. This defect is associated with a deficiency in the levels of the a-subunit of (109). Because this defect may be generalized, such patients also have olfactory dysfunction (110). 

Hypertension is one of the two principal risk factors of many cardiovascular diseases, such as coronary heart disease (CHD), stroke, and CHF. Individuals are considered hypertensive if their systoHc arterial blood pressure is over 140 mm Hg (18.7 Pa) or their diastoHc arterial blood pressure is over 90 mm Hg (12 Pa). Over 60 million people, or one-third of the adult population in the United States are estimated to be hypertensive (163). About 90% of these patients are classified as primary or essential hypertensive because the etiology of their hypertension is unknown. It is generally agreed that there is a very strong genetic or hereditary component to this disease. 

Mutations in human Kv-channel genes have been detected that are associated with hereditary diseases ranging from heart arrythmia (long QT-syndrome) and deafness to epilepsy and ataxia (see Table 2). Typically, many Kv-channel related channelopathies are correlated with a mutant phenotype that is episodic in nature and appears as a dominant hereditary trait. 

Fatal hereditary disorder that typically presents in the neonatal period. Clinical features include an array of hepatic, renal and neurological dysfunctions. Patients with Zellweger syndrome rarely survive the first year of life. The disease is caused by mutations in the Pex proteins leading to an defective import of peroxisomal matrix proteins and consequently to a loss of most peroxisomal metabolic pathways. 

Geha R, Quinti I, Austen K, Cicardi M, Sheffer A, Rosen F Acquired Cl-inhibitor deficiency associated with anti-idiotypic antibody to monoclonal immunoglobuhns. N Engl J Med 1985 312 534-540. Donaldson V, Hess E, McAdams A Lupus-erythe-matosus-like disease in three umelated women with hereditary angioneurotic edema. Arm Intern Med 1977 86 312-313. 

The detection of restriction fi agment length polymorphisms (RFLPs) facilitates prenatal detection of hereditary disorders such as sickle cell trait, beta-thalassemia, infant phenylketonuria, and Huntington s disease. Detection of RFLPs involves cleavage of double-stranded DNA by restriction endonucleases, which can detect subtle alterations in DNA that affect their recognized sites. Chapter 40 provides further details concerning the use of PCR and restriction enzymes for diagnosis. 

In the rare hereditary disease essential pentosuria, considerable quantities of L-xylulose appear in the urine because of absence of the enzyme necessary to reduce L-xylulose to xyhtol. Parenteral administration of xylitol may lead to oxalosis, involving calcium oxalate deposition in brain and kidneys (Figure 20-4). Various drugs markedly increase the rate at which glucose enters the... 

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