Acetoacetate and Acetyl CoA.
Aromatic, both glucogenic and ketogenic, essential amino acid.
Precursor for serotonin and niacin (vitamin B3).
Homogentisate oxidase.
Phenylalanine hydroxylase.
Accumulation of isovaleric acid.
Glutamate.
It serves as an alternate source of fuel for the brain.
To stabilize blood pressure.
The removal of a carboxyl group from a molecule, releasing carbon dioxide.
Tryptophan.
Leucine, isoleucine, and valine.
For complete oxidation.
Transamination to form Alpha keto isocaprioc acid.
They are essential amino acids with branched side chains, including leucine, isoleucine, and valine.
Dark urine and joint problems.
Glutamine.
Melatonin.
A branched chain, major ketogenic acid, and essential amino acid.
Tyrosine.
Phenylalanine hydroxylase.
The hydroxylation of tryptophan to 5-hydroxytryptophan (5-HT) by tryptophan hydroxylase.
Richner-Hanhart syndrome.
R-groups determine the unique characteristics and functions of each amino acid.
Formation of Tiglyl CoA with FAD.
Deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
Grey or red iris, photophobia, nystagmus, and decreased visual acuity.
The glucogenic pathway (as alanine) and the ketogenic pathway (as acetoacetate).
Methyl acrylyl CoA.
A process where an amino group is transferred from one amino acid to a keto acid.
NADPH, NADH, and tetrahydrobiopterin.
Non-essential, glucogenic, imino acid.
Scurvy, which manifests as impaired wound healing, bleeding gums, and skin rashes.
The PAH gene.
Tyrosine.
Branched chain, both glucogenic and ketogenic, essential amino acid.
In response to fight, fright, and flight situations.
Phenylpyruvate, which eventually converts into phenylacetate.
A methylated form of norepinephrine.
It is toxic, particularly to the nervous system.
S-adenosyl-methionine (SAM).
ATP and NADPH.
The hydroxylated form of dopamine.
Inability to metabolize phenylalanine, causing accumulation and neurological damage.
A rare autosomal recessive metabolic disorder.
4-hydroxy-2-oxoglutarate aldolase (HOGA).
Glucogenic amino acids can be converted into glucose, while ketogenic amino acids can be converted into ketone bodies.
Isobutyryl CoA.
Aromatic, both glucogenic and ketogenic, essential amino acid.
Transamination, oxidative decarboxylation, and further degradation.
Tyrosine.
An autosomal recessive genetic disorder affecting the metabolism of phenylalanine.
Vomiting, poor feeding, a distinctive sweaty feet-like odor, seizures, and developmental delays.
Acts as a regulator molecule involved in various physiological processes.
Mental retardation, agitation, convulsion, hypopigmentation, and mousy body odor.
They contain an aromatic ring in their structure and include phenylalanine, tyrosine, and tryptophan.
Mental retardation, keratosis of the palmar surface, painful corneal lesions, and photophobia.
Leucine, isoleucine, and valine.
Deposition of alkapton bodies in tissues, leading to symptoms like arthritis.
SLC6A19.
Hydroxy phenyl pyruvate.
Within the first 6 months of life.
Tyrosinase.
A rare metabolic disorder affecting leucine breakdown.
Vitamin C deficiency.
The formation of L-DOPA via tyrosine hydroxylase.
In the muscle.
Isovaleryl CoA.
Essential amino acids cannot be synthesized by the body and must be obtained from the diet.
To increase blood pressure, especially in cardiogenic shocks.
Alanine, acetoacetylCoA, formyl group, niacin, NAD+, serotonin, melatonin, hydroxy indole acetic acid, and indican.
Oxidation of homogentisic acid to benzoquinone acetate, forming black alkapton bodies.
Intellectual disability, seizures, and developmental delays.
A sweet, maple syrup-like odor due to ketoacid accumulation.
Homogentisic acid.
The removal of hydrogen from a molecule, often involved in oxidation reactions.
Hydroxyproline, through prolyl hydroxylase.
Succinyl CoA (B).
Tryptophan.
In chromaffin granules.
They may manifest as parkinsonism.
B-methyl crotonyl CoA.
An autosomal recessive genetic disorder due to the deficiency of homogentisate oxidase.
Niacin deficiency.
An autosomal recessive disease due to the complete absence of the enzyme tyrosinase, leading to hypopigmentation.
Acetyl CoA and Propionyl CoA.
It is pyridoxal phosphate dependent and involved in the catabolism of Tryptophan.
Failure to thrive, poor weight gain, vomiting, and enlarged liver.
Cabbage-like odor, hypoglycemia, liver failure, and mild mental retardation.
Fumarate (glucogenic pathway) and acetoacetate (ketogenic pathway).
Phenylalanine hydroxylase.
Homogentisic acid oxidase.
In the adrenal medulla.
It is an inhibitor of prolactin secretion and an important neurotransmitter.
Vasoconstriction, blood clotting, regulation of bowel movement, appetite, and sense of fullness.
It is anti-insulin in nature.
To ensure adequate levels for normal physiological processes.
Alpha methylbutyryl CoA.
It can block the pathway for niacin formation and NAD, leading to manifestations of pellagra.
Defective branched-chain alpha-ketoacid dehydrogenase (BCKD) complex.
A diet with less tyrosine content.
No, management focuses on symptom relief and supportive care.
Symptoms include dark urine, arthritis, and heart problems.
Aromatic, both glucogenic and ketogenic, essential amino acid.
Leucine, isoleucine, and valine.
Tyrosine.
Patients with high plasma and urinary levels of ammonia, such as in hyperammonemia and inborn errors of urea synthesis.
Acetyl CoA and Propionyl CoA (A & C).
BCKD (Branched-Chain Keto Acid Dehydrogenase).
They confer strength to fibrous proteins like collagen, elastin, and keratin.
Isovaleryl-CoA dehydrogenase.
In the pineal gland.
Acetoacetate and Acetyl CoA (F).
Phenylalanine, tyrosine, and tryptophan.
Tryptophan.
Its role in regulating mood and emotional well-being.
Depression and anxiety.
Phosphorylation and reduction.
Tryptophan.
It relaxes them, making it useful in asthma.
Prevention of the conversion of phenylalanine to tyrosine.
Because dopamine cannot enter the blood-brain barrier.
Affects BCAA metabolism, leading to toxic byproducts and intellectual disability.
Tetrahydrobiopterin, which is regenerated using NADPH.
It serves as an alternate source of fuel for the brain.
60%.
Transamination to Alpha keto beta methylvaleric acid.
Tyrosine amino transferase.
Homogentisic acid.
They are catabolized primarily in muscle tissue and are involved in energy production.
Genetic disorders that affect the metabolism of aromatic amino acids like phenylalanine, tyrosine, and tryptophan.
Tyrosinase.
To be oxidized by tryptophan pyrollase.
Branched chain, glucogenic, essential amino acid.
A genetic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine.
Severe intellectual disability and other neurological issues.
A disorder caused by the inability to break down tyrosine, leading to its accumulation in the body.
Tryptophan.
A metabolic disorder characterized by the accumulation of homogentisic acid due to a deficiency in the enzyme homogentisate oxidase.
Because the body cannot metabolize these amino acids.
Disruption in the catabolism of tyrosine, leading to accumulation of homogentisic acid.
A low protein diet.
Mutations in genes encoding BCKD complex components.
Testing for tyrosinemia for early diagnosis.
A low-protein diet to restrict BCAA intake and specialized formulas for nutrition.
They are involved in protein synthesis, energy production, and serve as precursors for other metabolites.
Incidentally through metabolic screening.
Fumaryl acetoacetate hydrolase.
Managing symptoms and ensuring adequate intake of tryptophan and other essential nutrients.
It serves as an alternate source of fuel for the brain.
Transamination to form Alpha keto isovaleric acid.
SuccinylCoA.
Tryptophan is a precursor for serotonin and melatonin, affecting mood and sleep.
Excretion of xanthurenic acid in the urine.
During the 3rd and 4th decade of life.
Tyrosinemia Type I or tyrosinosis.
Symptoms can include liver dysfunction, kidney problems, and neurological issues.
Pyridoxal phosphate.
Fumarylacetoacetate and maleylacetoacetate.
A low protein diet, restricted in tyrosine and phenylalanine.
Ascorbic acid.
Pellagra-like symptoms and neurological issues.
Due to increased sensitivity associated with the condition.
Symptoms arise from the deposition of alkapton bodies in joints and cartilage.
Melanin, catecholamines, and thyroxine.
