Presentation
Acronym ACACAD Synonyms ACACA deficiency ACAC deficiency ACC1 deficiency ACC deficiency Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
At the same time,however,much has changed. published or unpublished,making it possible for us to There has been immense progress in the technical present illustrations of nearly all known white matter possibilities of magnetic resonance and in the know [books.google.com]
[…] of the present invention. [google.ch]
Patients with PA typically present in the first days of life with dehydration, lethargy, hypotonia, vomiting, ketoacidosis, and hyperammonemia. Seizures, neutropenia, thrombocytopenia, and hepatomegaly may be present. [easternbiotech.com]
Entire Body System
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Poor Growth
UniProtKB/Swiss-Prot : 75 Acetyl-CoA carboxylase 1 deficiency: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [malacards.org]
Format Definition An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [uniprot.org]
After the perinatal problems were overcome, it became clear that she had severe brain damage, persistent myopathy, and poor growth. [nejm.org]
From NCBI Gene : Acetyl-CoA: carboxylase deficiency From UniProt : Acetyl-CoA carboxylase 1 deficiency (ACACAD): An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [ghr.nlm.nih.gov]
Cardiovascular
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Vascular Disease
disease : Preterax and Diamicron modified release controlled evaluationADVANCE試験 Action to control cardiovascular risk in diabetes studyACCORD試験 Acute-onset Type 1 Diabetes Mellitus急性発症1型糖尿病 Addison's diseaseアジソン病 Adie's tonic pupilアディー瞳孔 Adie's tonic [jds.or.jp]
Musculoskeletal
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Myopathy
One of the most striking clinical abnormalities was hypotonie myopathy. After the perinatal problems were overcome, it became clear that she had severe brain damage, persistent myopathy, and poor growth. [nejm.org]
UniProtKB/Swiss-Prot : 75 Acetyl-CoA carboxylase 1 deficiency: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [malacards.org]
Format Definition An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [uniprot.org]
From NCBI Gene : Acetyl-CoA: carboxylase deficiency From UniProt : Acetyl-CoA carboxylase 1 deficiency (ACACAD): An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [ghr.nlm.nih.gov]
Arch Neurol 46: 543–548 CrossRef PubMed Google Scholar Gahl WA, Dalakas MC, Charnas L et al. (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. [link.springer.com]
Skin
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Photosensitivity
Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity [books.google.com]
Urogenital
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Phenylketonuria
Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity 268 PelizaeusMerzbacher Disease and Xlinked Spastic Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria [books.google.com]
German Collaborative Study on Phenylketonuria. [link.springer.com]
Neurologic
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Spastic Paraplegia
Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria 284 Glutaric Aciduria Type 1 294 Propionic Acidemia 300 Nonketotic Hyperglycinemia 306 Maple Syrup Urine Disease 311 3Hydroxy 3MethylglutarylCoA Lyase Deficiency 321 SjögrenLarsson Syndrome 383 Lowe [books.google.com]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
This protocol can be provided by the Metabolic Treatment Center, and it should contain basic information about the disorder, necessary diagnostic investigations, and guidelines for treatment. [yumpu.com]
Página 414 - Report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel II). [books.google.es]
Clinical Characteristics With treatment, most children will have normal growth and development, though some have only partly or not responded to therapy. Without treatment, repeated episodes of metabolic acidosis lead to severe impairment or death. [medicalhomeportal.org]
There is no satisfactory treatment in neonates. Riboflavin and carnitine may be used. [pediatricneuro.com]
Prognosis
Both types of multiple carboxylase deficiency respond dramatically to treatment with oral bioin and prognosis is good if the condition is diagnosed and treated early. [sas-centre.org]
In general, the earlier symptoms present, the poorer the prognosis. [yumpu.com]
The prognosis is excellent if therapy is started early, before the onset of clinical symptoms. Lifelong oral treatment with free biotin is required. [emedicine.medscape.com]
"Acetyl-CoA synthetase 2 enhances tumorigenesis and is indicative of a poor prognosis for patients with renal cell carcinoma". Urologic Oncology. doi : 10.1016/j.urolonc.2018.01.013. PMID 29503142. Hallows WC, Lee S, Denu JM (July 2006). [en.wikipedia.org]
Clinical course Prognosis in the late-onset form is much better. [mrineonatalbrain.com]
Etiology
Sex Males and females are equally affected, as the genetic etiology is autosomal recessive. Two copies of the altered BTD gene are required. [emedicine.medscape.com]
Epidemiology
Methods Statistics Trigonometry Medical & Nursing Anatomy Anesthesiology Audiology Bacteriology Biochemistry Bioethics Biomedical Science Cardiology Cardiovascular Childbirth Chiropractic Dentistry Dermatology Diagnostic Imaging Drugs Endocrinology Epidemiology [brainscape.com]
Epidemiology Frequency Profound biotinidase deficiency has an incidence of about 1 per 137,400 population; partial biotinidase deficiency affects about 1 per 110,000 population. [emedicine.medscape.com]
Our previous epidemiologic findings involving biological measurements of dietary fat intake support a metabolic role of lipids in mammary carcinogenesis. [cancerres.aacrjournals.org]
Pathophysiology
Despite its rarity, early recognition is imperative because expeditious treatment may prevent or minimize clinical insult. [8] Pathophysiology Biotin is one of the water-soluble B-complex vitamins. [9] This imidazole derivative [9] is present in various [emedicine.medscape.com]
The underlying pathophysiological mechanism in urea cycle defects (vasogenic edema) is different from that in MSUD (vacuolating myelinopathy), as demonstrated by the distinctly different presentations on diffusion-weighted images. [mrineonatalbrain.com]
Prevention
The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. [books.google.es]
Maintenance on a low-protein diet, to minimize the burden of leucine that must be catabolized, prevents the development of metabolic acidosis. At higher intakes of protein, the affected infants become hypoglycemic and comatose. [doctorabel.us]
Routine preventive services for infants and children (birth-24 months). 2007 May. [Full Text]. Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. [emedicine.medscape.com]
Expression of a small interfering RNA (siRNA)–resistant form of ACCα mRNA prevented the effect of ACCα-RNAi but failed to prevent the effect of FAS gene silencing. [cancerres.aacrjournals.org]
The reason for using Adenosine- 5′-propylphosphate is that it is an ATP competitive inhibitor which prevents any conformational changes to the enzyme. [en.wikipedia.org]