Biomaterial Database

Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts. 1989

H Singh, and S Usher, and A Poulos

Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.

Dihydroxyacetone phosphate acyltransferase (DHAP-AT) and alkyldihydroxyacetone phosphate synthase (DHAP-synthase) activities were examined in subcellular fractions of rat liver. The results indicate that at least 80% of DHAP-AT (assays carried out at pH 5.4) activity in rat liver is in peroxisomes, and the remaining activity is mitochondrial. In contrast to DHAP-AT, DHAP-synthase was detected in all subcellular fractions analyzed but the activity in peroxisomes was 208-fold and 42-fold greater compared to mitochondria and microsomes, respectively. We estimate that at least 70% of the DHAP-synthase activity in rat liver is in peroxisomes. DHAP-AT and DHAP-synthase activities were also examined in homogenates of skin fibroblasts from patients with inherited defects in peroxisomal structure and/or function. Both the enzyme activities were deficient in Zellweger syndrome whereas the activities were only partially deficient in infantile Refsum's disease. Greater reduction in DHAP-synthase activity, but only a partial reduction in DHAP-AT activity was observed in rhizomelic chondrodysplasia punctata. However, both DHAP-AT and DHAP-synthase activities were either normal or near normal in Refsum's disease or X-linked adrenoleukodystrophy. The results reported suggest that various peroxisomal disease states can be identified based on DHAP-AT and DHAP-synthase activities in skin fibroblasts of patients.

UI	MeSH Term	Description	Entries
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D012035	Refsum Disease	An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.	HMSN Type IV,Heredopathia Atactica Polyneuritiformis,Neuropathy, Hereditary Motor and Sensory, Type IV,Phytanic Acid Storage Disease,Adult Refsum Disease,Classic Refsum Disease,HMSN 4,HMSN IV,Hemeralopia Heredoataxia Polyneuritiformis,Hereditary Motor And Sensory Neuropathy IV,Hereditary Motor and Sensory Neuropathy Type IV,Hereditary Motor and Sensory Neuropathy, Type IV,Hereditary Type IV Motor and Sensory Neuropathy,Phytanic Acid Oxidase Deficiency,Refsum Disease, Adult,Refsum Disease, Classic,Refsum Disease, Phytanic Acid Oxidase Deficiency,Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency,Refsum Syndrome,Refsum's Disease,Refsum's Syndrome,Refsum-Thiebaut Syndrome,Adult Refsum Diseases,Classic Refsum Diseases,Disease, Adult Refsum,Disease, Classic Refsum,Disease, Refsum,Disease, Refsum's,Diseases, Adult Refsum,Diseases, Classic Refsum,HMSN IVs,Heredoataxia Polyneuritiformis, Hemeralopia,Polyneuritiformis, Hemeralopia Heredoataxia,Polyneuritiformis, Heredopathia Atactica,Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency,Refsum Diseases, Adult,Refsum Diseases, Classic,Refsum Thiebaut Syndrome,Refsum-Thiebaut Syndromes,Refsums Disease,Refsums Syndrome,Syndrome, Refsum,Syndrome, Refsum's,Syndrome, Refsum-Thiebaut,Syndromes, Refsum-Thiebaut
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000217	Acyltransferases	Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (From Enzyme Nomenclature 1992) EC 2.3.	Acyltransferase
D000326	Adrenoleukodystrophy	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).	Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D013347	Subcellular Fractions	Components of a cell produced by various separation techniques which, though they disrupt the delicate anatomy of a cell, preserve the structure and physiology of its functioning constituents for biochemical and ultrastructural analysis. (From Alberts et al., Molecular Biology of the Cell, 2d ed, p163)	Fraction, Subcellular,Fractions, Subcellular,Subcellular Fraction
D014166	Transferases	Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). The classification is based on the scheme "donor:acceptor group transferase". (Enzyme Nomenclature, 1992) EC 2.	Transferase
D015211	Zellweger Syndrome	An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.	Cerebrohepatorenal Syndrome,Zellweger-Like Syndrome,Cerebro-Hepato-Renal Syndrome,PBD, ZSS,Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum,Zellweger Disease,Zellweger Spectrum,Zellweger Syndrome Spectrum,Zellweger's Syndrome,Cerebro Hepato Renal Syndrome,Spectrum, Zellweger,Zellweger Like Syndrome