There are a number of other disorders of the fatty acid and glycerol metabolism, including those which comprise

Fatty acids are a preferred source of energy for the heart and an important energy source for skeletal muscle during prolonged exertion. During fasting, therefore, most of the body’s energy needs to be provided through the fat metabolism. In order to use fat as an energy source, fat tissue must be catabolized to free fatty acids and glycerol. Glycerol is used in the liver for triglyceride synthesis or for gluconeogenesis. The free fatty acids are metabolized in the liver and the peripheral tissues via the ?-oxidation to acetyl-CoA. Carnitine is required for long-chain fatty acid oxidation. A Caritinmangelkann be primary or secondary. The secondary carnitine is a consequence of many organic Azidämien and disorders of fatty acid oxidation. There are a number of other disorders of fatty acid and glycerol metabolism, including those that include fatty acid transport and mitochondrial oxidation glycerol ketones peroxisome biogenesis and very long chain fatty acids Other disorders of lipid metabolism See also approach in a patient with suspected congenital metabolic disorder ketones metabolic disorders disease (OMIM number) defects proteins or enzymes defective gene or genes (chromosomal location) Remarks 3-hydroxy-3-methyl-CoA synthase deficiency (605911) 3-hydroxy-3-methylglutaryl-CoA synthase HMGCS2 Biochemistry (600234) Profile: S. below Clinical features: Episodic nonketotische hypoglycemia Treatment: No fasting 3-hydroxy-3-methyl-CoA lyase deficiency See Table metabolic disorders of branched chain amino acids – – succinyl-CoA 3-oxoacid CoA transferase deficiency (245050) succinyl-CoA 3-oxoacid CoA transferase OXCT (5p13) * Biochemical profile: ketonuria Clinical features: Heavy episodic Ketoazidos E., Vomiting, hyperventilation treatment: glucose during acute condition plus reasonable use of bicarbonate, high-carbohydrate diet with some restriction of protein and fat mitochondrial acetoacetyl-CoA thiolase deficiency (607809) See Table metabolic disorders of branched-chain amino acids – – cytoplasmic acetoacetyl -CoA thiolase deficiency (100678) Cytoplasmic acetoacetyl-CoA thiolase ACAT2 (6q25,3-q26) Biochemical profile: Unspecific Clinical features: mental retardation, hypotonia treatment: Not determined * The gene was identified, and the molecular basis has been elucidated. OMIM = Online Mendelian Inheritance in Man (see OMIM database). Other disorders of lipid metabolism disorder (OMIM number) Defective proteins or enzymes defective gene or genes (chromosomal location) Comments Sjögren-Larsson syndrome (270200) Fettsäurealdhydrogenase ALDH3A2 (17p11.2) * Biochemical profile: no readily detectable abnormality in blood or urine Clinical Features : ichthyosis, mental retardation, spastic quadriplegia or diplegia, retinopathy, seizures treatment: Symptomatic; topical keratolytic or systemic retinoids, reduction of long-chain and medium-chain triglycerides in the diet * The gene was identified, and the molecular basis has been elucidated. OMIM = Online Mendelian Inheritance in Man (see OMIM database).

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