Presentation
[…] primarily in large and medium arteries -initiated by endothelial inflammation -common in areas with high pressure and turbulence -may present first as fatty streak Atherosclerosis Risk factors: -age -males at higher risk than females until menopause [quizlet.com]
Infants appear to be normal and early symptoms, if any are present, are vague. [dictionnaire.sensagent.leparisien.fr]
Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism. [medicalhomeportal.org]
Patients with milder forms may present similarly to cerebral palsy and may have choreiform movements. [msdmanuals.com]
Entire Body System
- Fishing
[…] oils (“fish burps,” aftertaste, nosebleeds, loose stools) by having your supplement with meals. 12 of 101 Black Cohosh This herb is a phytoestrogen—a plant compound that’s similar in structure to the hormone estrogen—and is believed to... [prevention.com]
Methionine and cysteine are found mainly in meat, fish, eggs, and dairy products. [sharecare.com]
- Falling
In normal pregnancy, Hcy concentrations fall. [aetna.com]
Gastrointestinal
- Failure to Thrive
[…] to thrive, adult (R62.7) failure to thrive, child (R62.51) feeding problems in newborn (P92.-) sequelae of malnutrition and other nutritional deficiencies (E64.-) E63.0 Essential fatty acid [EFA] deficiency E63.1 Imbalance of constituents of food intake [en.wikisource.org]
Patients present with low to undetectable concentrations of folate in serum and cerebrospinal fluid, pancytopenia (low number of all blood cells), impaired immune responses that increase susceptibility to infections, and a general failure to thrive (149 [lpi.oregonstate.edu]
Urogenital
- Phenylketonuria
Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism. (12 Dec 1998) intermediary metabolism Enzyme-catalysed processeswithin cells that extract energy from [kmle.co.kr]
[…] unisystemic Langerhans-cell histiocytosis C966Unifocal Langerhans-cell histiocytosis D813Adenosine deaminase [ADA] deficiency D815Purine nucleoside phosphorylase [PNP] deficiency D81810Biotinidase deficiency D841Defects in the complement system E700Classical phenylketonuria [cms.gov]
[…] deficiency 2-Methylbutyryl-CoA dehydrogenase deficiency Methionine Hypermethioninemia Homocystinuria Cystathioninuria General BC / OA Propionic acidemia Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency G→ fumarate Phenylalanine / tyrosine Phenylketonuria [dictionnaire.sensagent.leparisien.fr]
E70 Disorders of aromatic amino-acid metabolism E70.0 Classical phenylketonuria E70.1 Other hyperphenylalaninaemias E70.2 Disorders of tyrosine metabolism. Includes: Alkaptonuria. Hypertyrosinaemia. Ochronosis. Tyrosinaemia. [emprocell.com]
Hypervitaminosis D ( E68 ) Sequelae of hyperalimentation E70-E90 - Metabolic diseases (E70-E79) Metabolic disorders of proteins, fats, and carbohydrates (E70-E72) Amino-acids ( E70 ) Disorders of aromatic amino-acid metabolism ( E70.0 ) Classical phenylketonuria [wikidoc.org]
Neurologic
- Irritability
They are also utilized by the body in detoxification reactions, helping the body to excrete heavy metals, and reducing bladder irritation by regulating the formation of ammonia in the urine. [sharecare.com]
[…] malformations of anterior segment of eye 2 Q11.0 Cystic eyeball 2 Q10.4 Absence and agenesis of lacrimal apparatus 2 P96.2 Withdrawal symptoms from therapeutic use of drugs in newborn 2 P95 Fetal death of unspecified cause 2 P91.3 Neonatal cerebral irritability [pps.ivant.com]
Workup
Serum
- Hypercholesterolemia
[…] metabolism disorder, unspecified E770Defects in post-translational modification of lysosomal enzymes E771Defects in glycoprotein degradation E778Other disorders of glycoprotein metabolism E779Disorder of glycoprotein metabolism, unspecified E780Pure hypercholesterolemia [cms.gov]
Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine ( Primary, I, II ) Mineral Cu Wilson's disease [wikidoc.org]
Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain, Long-chain [bionity.com]
Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase ( Short-chain, Medium-chain, Long-chain [chemeurope.com]
[ edit ] Familial hypercholesterolemia Fredrickson's hyperlipoproteinemia, type IIa Hyperbetalipoproteinemia Hyperlipidemia, Group A Low-density-lipoprotein-type [LDL] hyperlipoproteinemia E78.1 Pure hyperglyceridemia Elevated fasting triglycerides Endogenous [en.wikisource.org]
- Hypophosphatemia
[…] hemochromatosis E83111Hemochromatosis due to repeated red blood cell transfusions E83118Other hemochromatosis E83119Hemochromatosis, unspecified E8319Other disorders of iron metabolism E8330Disorder of phosphorus metabolism, unspecified E8331Familial hypophosphatemia [cms.gov]
[…] cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine ( Primary, I, II ) Mineral Cu Wilson's disease / Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO 4 3− Hypophosphatemia [wikidoc.org]
Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain ) - Carnitine ( Primary, I, II ) Mineral Cu Wilson's disease / Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO 4 3�' Hypophosphatemia [bionity.com]
Adrenoleukodystrophy - Acyl-coA dehydrogenase ( Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain ) - Carnitine ( Primary, I, II ) Mineral Cu Wilson's disease / Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO 4 3�' Hypophosphatemia [chemeurope.com]
osteoporosis (M80-) E83.30 Disorder of phosphorus metabolism, unspecified E83.31 Familial hypophosphatemia Vitamin D-resistant osteomalacia Vitamin D-resistant rickets Excludes1: vitamin D-deficiency rickets (E55.0) E83.32 Hereditary vitamin D-dependent [en.wikisource.org]
Treatment
Leucine ...as a treatment “Leucine is an essential amino acid. [diagnose-me.com]
Similar to sulfite oxidase deficiency but also urinary stones Treatment: No effective treatment Low-sulfur diet possibly helpful in patients with milder symptoms Molybdopterin synthase Gephyrin * For complete gene, molecular, and chromosomal location [msdmanuals.com]
Hence treatment includes both betaine and a diet low in methionine. [dictionnaire.sensagent.leparisien.fr]
Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism. [medicalhomeportal.org]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
This case emphasized the need for a systemic evaluation for hyper-homocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology. [aetna.com]
Also, a genetic component in NTD etiology is evidenced by the increased risk in women with a family history of an NTD and also by variations in risk among ethnicities (37). [lpi.oregonstate.edu]
Epidemiology
Moderate alcohol consumption and breast cancer in women: from epidemiology to mechanisms and interventions. Alcohol Clin Exp Res. 2013;37(1):23-30. (PubMed) 122. Rohan TE, Jain MG, Howe GR, Miller AB. [lpi.oregonstate.edu]
Genest and colleagues (2000) noted that the epidemiological evidence linking total plasma Hcy to atherosclerosis is mainly derived from case-control studies, however the strength of this association is weak in prospective studies. [aetna.com]
Prevention
Treatable - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary [medicbind.com]
Build new cells Is critical to the prevention of birth defects Plays a key role in heart health by preventing the creation of homocysteine, an amino acid naturally produced in the body that's connected to cardiac problems Food sources: lentils, pinto [prevention.com]
However, the prevention of neural tube defects (NTDs) was not considered when setting the RDA for pregnant women. [lpi.oregonstate.edu]
Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death: The Vitamin Intervention for Stroke Prevention (VISP) randomized controlled trial. JAMA. 2004;291(5):565-575. [aetna.com]