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Glutaric acidemia type 1 (GA-1) is caused by a deficiency of glutaryl-CoA dehydrogenase which results in the accumulation of 3- hydroxyglutaric acid. It is an autosomal recessive inherited disorder that leads to the disruption of the lysine, hydroxylysine, and tryptophan metabolism. Nutrition management involves: Restricting lysine and tryptophan rich diets Supplementation of L-carnitine, riboflavin, and pantothenic acid Lowering levels of 3-hydroxyglutaric acid and glutaric acid There are two methods for nutrition management of GA-1 when the condition is chronic and when it becomes acute. Nutrition management of chronic GA-1 Nutritional management of a GA-1 patients is the prompt treatment to the intercurrent illnesses which is a most critical component in the history of the dietary management. Amino acids lysine and tryptophan are restricted in the diet for a patient with GA-1. Medical diets free of lysine and tryptophan provide varying amounts of essential amino acids, fat, carbohyd...

Homocystinuria was first reported in 1962 by Carson, Neill, and colleagues. Two years ago ,  the enzymatic defect was identified. Homocystinuria is an autosomal recessive condition caused by a deficiency of the enzyme cystathionine-β-synthase (CBS), which leads to the deficiency of cystathionine and cysteine and the accumulation of homocysteine and methionine. Diagnosis The diagnosis of homocystinuria is based on the recognition of the clinical phenotype in conjunction with the identification of an elevated total plasma homocysteine and elevated plasma methionine concentrations (via quantitative plasma amino acid analysis). Low cystine and low cystathionine are also seen. In addition, increased urinary excretion of homocysteine as well as cysteine-homocysteine disulfide can be identified on urine amino acid analysis. Confirmation of the diagnosis can be done via enzyme assay, typically performed on cultured skin fibroblasts, lymphocytes, liver tissue or via molecular studies. Manag...

Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine. Isovaleric acidemia (IVA) is caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase, leading to accumulation of isovaleryl-CoA and its metabolites including free isovaleric acid, 3-hydroxyisovalerate and N-isovalerylglycine. Isovaleric acidemi...

MSUD is inherited disorder that ends up in progressive nervous system degeneration and for some, brain damage. The hereditary defect that produces MSUD comes from a defect within the enzyme called branched-chain alpha-keto acid dehydrogenase (BCKD), an important ingredient for the breakdown of certain amino acids (leucine, isoleucine, valine). In the absence of the BCKD enzyme, these amino acids build up to toxic levels within the body. The name MSUD comes from the fact that when the blood amino acid levels are high, urine takes on the syrup’s distinctive odor. 1 out of every 185,000 babies born in the world are detected with MSUD. The four types of maple syrup urine disorders are: Classic Intermediate Intermittent Thiamine-response Other names for this condition BCKD deficiency Branched-chain alpha-keto acid dehydrogenase deficiency Branched chain ketoaciduria Ketoacidemia MSUD Causes MSUD is generated by the modification in the genes  DBT ,  BCKDHB  and  BCKDHA . T...

Methylmalonic acidemia or propionic acidemia is an autosomal recessive inherited disorder in which the body cannot break down valine, isoleucine, threonine, and methionine. Lack of functional copies of the enzymes methylmalonyl CoA mutase, methylmalonyl CoA epimerase and propionyl-CoA carboxylase in an adequate level causes methylmalonic acidemia or propionic acidemia. What is autosomal recessive inheritance? In an autosomal recessive inheritance, both parents carry the mutated gene and each cell presents the mutation in both copies of their genes. Signs and symptoms of the conditions are not necessarily manifested in the parent. Every generation of an affected family does not show autosomal recessive disorders. Autosomal recessive inheritance pattern Autosomal recessive condition is rare, because chances that both parents are carriers for the same recessive genetic condition are low. Even if both the parents are carriers for the same condition, there is only a 25% chance of passing th...

Tyrosinemia is caused when the body cannot effectively break down the tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, leading to serious liver and kidney disturbances. Mutation in the Fumarylacetoacetate-hydroxylase (FAH) gene, Aminotransferase (TAT) gene and Hydroxyphenylpyruvate-dioxygenase (HPD) gene are all responsible for tyrosine degradation pathway. Types Type I tyrosinemia: can be caused by mutationsin the  FAH   gene. Type II tyrosinemia: can be confirmed by detection of a mutation in  TAT  gene in cultured fibroblasts. Type III tyrosinemia: mutation in the  HPD gene in cultured fibroblasts. Symptoms Intellectual disability Seizures Periodic loss of balance and coordination (intermittent ataxia) Increased tendon reflexes                Metabolic Pathway for Phenylalanine and Tyrosine             Dysfunction of various genes in the phenylal...

Urea Cycle Disorders (UCDs) is a genetic disorder caused due to gene mutation. Prevalence of Urea Cycle Disorders. The incidence of UCDs is estimated to be at least 1:35,000 births; partial defects may make the number much higher worldwide. Urea cycle disorder prognosis:  The body uses protein for growth and repair. Generally we consume much more protein than the body needs. Normally, the extra protein that the body does not need is converted in the liver to a chemical called ammonia and then, through a series of steps (known as the urea cycle) into another chemical called urea. Urea will pass through the kidneys where it is removed from the body in the urine. People with a Urea Cycle Disorder are born without or with very little of one of the six enzymes that breakdown ammonia. In Urea Cycle Disorders, the extra protein the body does not use is converted into ammonia, but the liver cannot convert some or all the ammonia into urea for excretion in the urine. A deficiency of one of ...

Autism affects one in 160 children globally.  A whole body or   neuro-mental disorder , it affects people in varying degrees and in a variety of ways.  Commonly witnessed comorbidities include   seizures , depression, gastrointestinal and sleep disturbances, eating and feeding difficulties, anxiety, bipolar disorder, attention deficit and hyperactivity disorder (ADHD).  These difficulties can extend across the life span.  Studies have found that people with autism have half the life span compared with the general population – an average of 36 versus 72 years. (Guan 2017) Autism itself is not a cause of premature mortality. Rather, it relates to many medical and mental health conditions in this report – most of which are treatable and/or preventable . Causes Scientific evidence suggests that there are many environmental and genetic factors that may make a child more likely to have  ASD .  Factors that increase the risk of developing ASD are: Geneti...

Epilepsy affects 20- 33% of people with autism, compared to an estimated 1-2% of the general population. Epilepsy , or seizure disorder, was the first medical condition clearly connected to autism. (Gubbay 1970) Emotionally cold parenting and autism is a false theory because there’s evidence that autism is a neurodevelopmental condition (affecting the brain development). The overlap of autism and epilepsy appears to be most common in people who also have  intellectual disability . (Amiet 2008) Intellectual disability is defined as an IQ score below 70, along with challenges or difficulties performing everyday functions.  Intellectual disability affects an estimate 32% of people with autism. (Christensen 2016) Diagnosis and treating epilepsy effectively with autism is important, to prevent the potential for brain damage and death from uncontrolled seizures.  A review of 21 studies in 2012 found out that death due to epilepsy was 7-30% among people with autism. (Woolfenden ...