Neonatal adrenoleukodystrophy,

IRD, infantile Refsum s disease NALD, neonatal adrenoleukodystrophy ZS, Zellweger s syndrome. 

ALDP, DHAP, dihydroxyacetone phosphate DHAPAT, dihydroxyacetone phosphate acyltransferase NALD, neonatal adrenoleukodystrophy RCDP, rhizomelic chondrodysplasia punctata X-ALD, X-linked adrenoleukodystrophy ZS, Zellweger s syndrome. 

Dehydrogenase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy. Catabolism of essential amino acid skeletons is discussed in the chapters Phenylketonuria and HMG-CoA Lyase Deficiency. The chapters Inborn Errors of Urea Synthesis and Neonatal Hyperbilirubinemia discuss the detoxification and excretion of amino acid nitrogen and of heme. The chapter Gaucher Disease provides an illustration of the range of catabolic problems that result in lysosomal storage diseases. Several additional chapters deal with key aspects of intracellular transport of enzymes and metabolic intermediates the targeting of enzymes to lysosomes (I-Cell Disease), receptor-mediated endocytosis (Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia) and the role of ABC transporters in export of cholesterol from the cell (Tangier disease). 

Cerebrohepatorenal (Zellweger s) syndrome Infantile Refsum s disease Neonatal adrenoleukodystrophy Rhizomelic chondrodysplasia punctata Hyperpipecolic acidemia Genetic diseases with generalized impairment of peroxisomal function but normal number of peroxisomes... 

In addition to primary defects in bUe acid synthesis, secondary abnormalities have been noted in peroxisomal disorders, such as neonatal adrenoleukodystrophy and cerebrohepatorenal (ZeUweger s) syndrome—an autosomal recessive condition associated with severe cholestasis in which side chain oxidation is impaired. 

Three genetic disorders Zellweger s syndrome, neonatal adrenoleukodystrophy, and childhood adrenoleukodys-trophy) exhibit defective formation of peroxisomes (in Zellweger s syndrome no morphologically detectable peroxisomes are present) or deficiency of one or more constituent enzymes. All three disorders are characterized by a marked accumulation of very long chain, saturated, unbranched fatty acids (tetracosanoic and hexacosanoic acids) in liver and central nervous system tissues, severe neurological symptoms, and early death. 

Kelley Rl, DattaNS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, etal. Neonatal adrenoleukodystrophy new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986 23(41 869-901. 

Fournier, B., Saudubray, J.M., Benichou, B., Lyonnet, S., Munnich, A., Clevers, H. Poll-The, B.T. (1994)7. Clin. Invest. 94, 526-531. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudo-neonatal adrenoleukodystrophy. 

Following the initial report by PoU-The et al. of two patients with a clinical presentation strongly resembling neonatal adrenoleukodystrophy, very few additional patients have been descrihed. In these patients the straight-chain acyl-CoA oxidase is deficient resulting in the deficient oxidation of C26 0 only, with normal oxidation of branched-chain fatty acids which explains the normal levels of pristanic acid and the bile acid intermediates in these patients. 

Brown, F.R., 3d, McAdams, A.J., Cummins, J.W., Konkol, R., Singh, I., Moser, A.B. Moser, H.W. i 9%2) Johns Hopkins Med. J. 151, 34A-351. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy similarities in phenotype and accumulation of very long chain fatty acids. 

Acyl-CoA oxidase deficiency was first described in 1988 by Poll-The et al. [4] under the name pseudo-neonatal adrenoleukodystrophy since the 2 patients described had the typical signs and symptoms described for neonatal adrenoleukodystrophy by Kelley et al. [5]. However, peroxisomes were present in the patients liver albeit of enlarged size. In addition THCA and DHCA were completely normal. 

Neonatal adrenoleukodystrophy (NALD) Peroxins Generalized Multiple loci 202370... 

Acyl-Co A oxidase deficiency (pseudo-neonatal adrenoleukodystrophy) Straight-chain acyl-CoA oxidase (SCOX) Generalized 17q25 264470... 

Poll-The BT, Roels F, Ogier H, Scotto J, Vamecq J, Schiitgens RBH et al. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 1988 42(3) 422-434. 

Pseudo-corpus luteum deficiency Pseudo-neonatal adrenoleukodystrophy Pseudo-vaginal perineoscrotal hypospadia Pseudo-Zellweger syndrome Pterin carbinolamine-4a-dehydratase deficiency Purine nucleoside phosphorylase deficiency Pyroglutamic aciduria... 

---