Related Experiment Video

Updated: Jun 22, 2026

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy
07:07

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy

Published on: August 3, 2021

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency

Shuhei Ide1, Masayuki Sasaki, Mitsuhiro Kato

  • 1Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

Brain & Development
|June 13, 2009
PubMed

Insights

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare metabolic disorder. Genetic mutations cause severe neurological symptoms, including dystonia and developmental delay, due to impaired neurotransmitter synthesis.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare autosomal recessive metabolic disorder.
  • It is characterized by a deficiency in the enzyme AADC, crucial for synthesizing key neurotransmitters like dopamine and serotonin.

Observation:

  • Sibling cases presented with oculogyric crises, dystonic attacks, and severe psychomotor retardation from infancy.
  • Cerebrospinal fluid analysis revealed low homovanillic acid and 5-hydroxyindoleacetic acid, with elevated L-dopa.
  • Plasma AADC activity was absent, and genetic testing identified a point mutation in the AADC gene.

Findings:

  • MRI showed reduced prefrontal volumes but normal myelination.
  • FDG-PET imaging indicated hypometabolism in the prefrontal cortex and basal ganglia.
  • These neuroimaging findings correlate with the observed clinical symptoms.

Implications:

  • The study highlights the severe neurological impact of AADC deficiency.
  • Abnormal basal ganglia function likely underlies dystonic features, while prefrontal cortex dysfunction contributes to psychomotor retardation.
  • Understanding these correlations aids in diagnosing and managing this rare condition.

More Related Videos

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis (FACE) Method06:13

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis (FACE) Method

Published on: March 31, 2022

Structural Biology and Analytical Chemistry Approaches for Characterizing C-Glycoside Metabolic Enzymes in Human Gut Microbiota13:35

Structural Biology and Analytical Chemistry Approaches for Characterizing C-Glycoside Metabolic Enzymes in Human Gut Microbiota

Published on: May 23, 2025

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Carbohydrate Metabolism01:36

Carbohydrate Metabolism

Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in the...
Carbohydrate Metabolism01:36

Carbohydrate Metabolism

Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in the...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...