Search results
Results from the WOW.Com Content Network
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. [2] This disorder is classified as a multiple carboxylase deficiency , a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
[2] [7] The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness, while other individuals mild symptoms may never be diagnosed.
The ICD-10 Clinical Modification (ICD-10-CM) is a set of diagnosis codes used in the United States of America. [1] It was developed by a component of the U.S. Department of Health and Human services, [ 2 ] as an adaption of the ICD-10 with authorization from the World Health Organization .
For this reason peroxisomes are ubiquitous in the liver and kidney. D-BP deficiency is the most severe peroxisomal disorder, [1] often resembling Zellweger syndrome. [2] Characteristics of the disorder include neonatal hypotonia and seizures, occurring mostly within the first month of life, as well as visual and hearing impairment. [3]
[3] Type III tyrosinemia results from a mutation in the HPD gene, which encodes the enzyme 4-hydroxyphenylpyruvate dioxygenase. [4] Type III tyrosinemia is the rarest of the three conditions, with only a few cases ever reported. [5] Most of those cases have included intellectual disability and neurologic dysfunction. [3]
[10] [11] [12] Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all functions of this enzyme complex. [13] Without enough of this enzyme complex, long-chain fatty acids cannot be metabolized. As a result, these fatty acids are not converted to energy, which can lead to some features of this ...
The diagnosis of 3-Methylcrotonyl-CoA carboxylase deficiency is confirmed by decreased enzyme activity in fibroblasts or white blood cells. [8] Although no treatment options have been proven to help manage 3-Methylcrotonyl-CoA carboxylase deficiency [ 9 ] proposed treatments include L-carnitine supplements, [ 10 ] glycine administration, [ 11 ...