Oxidase Deficiency

Deficiency or Toxicity in Humans. Molybdenum deficiency in humans results in deranged metaboHsm of sulfur and purines and symptoms of mental disturbances (130). Toxic levels produce elevated uric acid in blood, gout, anemia, and growth depression. Faulty utiH2ation results in sulfite oxidase deficiency, a lethal inborn error. 

Garrett, R. M., et al., 1998. Human snlfite oxidase R160Q Identification of the mutation in a snlfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proceedings of the National Academy of Sciences HSA 95 6394—6398. 

Kisker, C., et al., 1997. Molecular basis of snlfite oxidase deficiency from die structure of snlfite oxidase. Cd/91 973-983. 

Figure 13. Mosaic of cytochrome oxidase-deficient muscle fibers (asterisks) in a patient with KSS and a heteroplasmic mtDNA deletion.

The condition known as fatal infantile mitochondrial myopathy and renal dysfunction involves severe diminution or absence of most oxidoreductases of the respiratory chain. MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke) is an inherited condition due to NADHiubiquinone oxidoreductase (complex I) or cytochrome oxidase deficiency. It is caused by a muta-... 

Hypouricemia and increased excretion of hypoxanthine and xanthine are associated with xanthine oxidase deficiency due to a genetic defect or to severe liver damage. Patients with a severe enzyme deficiency may exhibit xanthinuria and xanthine lithiasis. 

Deficiency of molybdenum cofactor can lead to sulphite oxidase deficiency (Anke and Glei 1994). 

NADPH oxidase deficiency and catalase positive organisms in chronic granulomatous disease... 

Wu, X., Wakamiya, M., Vaishnav, S. et al. Hyperuricemia and urate nephropathy in urate oxidase-deficient mice Proa Natl Acad. Sci. U.S.A. 91 742-746,1994. 

Acyl-CoA oxidase deficiency D-bifunctional protein deficiency Racemase deficiency Refsum s disease... 

Acyl-coenzyme (Co)A oxidase deficiency is a rare disorder that presents with progressive psychomotor and neurological deterioration and demyelination demonstrable by magnetic resonance imaging. Its clinical presentation and progression resembles that seen in NALD [13]. 

Tauber, A. I., Borregaard, N., Simons, E., Wright, J. (1983). Chronic granulomatous disease A syndrome of phagocyte oxidase deficiencies. Medicine 62,286-309. 

Sulfite oxidase deficiency (+Mo-cofactor) u Sulfocysp, Taup... 

Homocyst(e)ine CBS deficiency Cobalamin defects/defi-ciency MTHFR deficiency Methionine adenosyltrans-ferase deficiency Hyperhomocysteinemia Sulfite oxidase deficiency... 

Taurine Sulfite oxidase deficiency Mo-cofactor deficiency Hemolytic plasma ... 

A large elevation of Hey in body fluids and tissues is found in several genetic enzyme deficiencies, the homocystinurias. These include cystathionine /3-synlhase deficiency [9], the remethylation defects due to deficiency of MTHF reductase [10], methionine synthase and methionine synthase reductase deficiencies, as well as defects of intracellular cobalamin metabolism [11], namely the cblF, cblC and cblD defects. It is noteworthy that low levels of total Hey (tHcy) have been described in sulphite oxidase deficiency [12]. 

Johnson JL, Duran M (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, NY, pp 3163-3177... 

Sass JO, Nakanishi T, SatoT, ShimizuA (2004) New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Ann Clin Biochem 41 157-159... 

Unfortunately, a minority of the patients with peroxisomal dysfunction cannot be diagnosed using plasma parameters. In the authors laboratory, patients have been seen with peroxisome biogenesis defects, D-bifunctional protein deficiency, and acyl-CoA oxidase deficiency in whom no abnormalities of plasma VLCFA, phytanic acid, pristanic acid or bile acids could be established. Hence, a strong clinical suspicion of peroxisomal disease should always be verified by fibroblast investigation, regardless of the outcome of plasma analyses. 

The appropriateness of using platelets, as a cell mirroring some neurochemical processes, finds its rationale in the numerous similar features of platelets and neurones Platelets store and release neurotransmitters and express appropriate neurotransmitter transporters and some neurone-related proteins such as NMDA receptors. Along these lines, different authors reported abnormalities in platelets physiology and function in AD. At first, Zubenko and colleagues described an alteration in platelet membrane fluidity in AD patients [99]. Other studies, performed on platelets obtained from patients with moderate to severe AD, reported cytoskeletal abnormalities, cytochrome oxidase deficiency, abnormal cytoplasmic calcium... 

The evidence for a pterin-substituted 1,2-enedithiolate was first reported by Raja-gopalan, Johnson, and coworkers, who isolated pterins from the oxidative decomposition of molybdenum-bound MPT, Figure 4 [7,49,55,56], In complementary work, Taylor and coworkers confirmed the structure of several of the pterin decomposition products by direct synthesis (see Section V. A) [30,57-59], Urothi-one, first isolated in 1940 from human urine [60], was shown to be a metabolic degradation product of MPT [37], Other isolated pterin-containing decomposition and/or derivatized products from molybdenum enzymes include Form A, Form B (a urothione-like product), and camMPT (Figure 4) [7], Two other pterins, Form Z and the MPT precursor, can be obtained from molybdenum deprived organisms, N. crassa Nit-1, and oxidase-deficient children, neither of which pro-... 

Diaz, F., Thomas, C. K., Garcia, S., Hernandez, D. and Moraes, C. T. (2005) Mice lacking COXIO in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency. Hum Mol Genet 14, 2737-2748. 

D4. DiGiovanni, S., Mirabella, M., Papacci, M., Odoardi, F., Silvestri, G., and Servidei, S., Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. Mol. Cell. Neurosci. 17, 696-705 (2001). 

Figure 20.22 Catabolism of phenylalanine and tyrosine. A indicates the lesion in classic phenylketonuria B indicates a tyrosinemia caused by tyrosine transaminase deficiency C indicates a tyrosinemia caused by p-hydroxyphenylpyruvate oxidase deficiency and the lesion in neonatal tyrosinemia D indicates alcaptonuria.

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