Metabolic disorders

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Metabolic disorders ( Sub Categories )

PEX10 Autosomal recessive ataxia due to PEX10 deficiency

Recessive hereditary ataxia due to deficiency is a rare neurological disorder causing loss of balance and motor coordination due to impaired cerebellar or peripheral nerve function, often linked to enzyme or protein deficiencies.

PEX16 Autosomal recessive ataxia due to PEX16 deficiency

Recessive hereditary ataxia due to deficiency is a rare genetic neurological disorder that causes progressive loss of balance and motor coordination due to a deficiency of a specific enzyme or protein affecting cerebellar or peripheral nerve function.

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PEX2 Autosomal recessive ataxia due to PEX2 deficiency

Recessive hereditary ataxia due to deficiency is a rare genetic neurological disorder causing loss of balance and motor coordination, often due to a deficiency of an essential enzyme or protein, leading to difficulties in walking and speech.

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Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Recessive hereditary ataxia associated with blindness and deafness is a rare neurological disorder characterized by loss of balance and motor coordination, along with progressive hearing and vision loss, due to a genetic defect affecting the central nervous system and sensory functions.

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CADDS (CADDS syndrome)

CADDS syndrome (Cerebral, Autoimmune, Dysmorphic, and Developmental Syndrome) is a rare genetic disorder affecting the nervous and immune systems. It is characterized by neurodevelopmental delay, immune dysfunction, seizures, and other symptoms such as motor and cognitive developmental impairment.

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Disorder of peroxisomal alpha-, beta- and omega-oxidation

Fatty acid oxidation disorder is a group of inherited metabolic conditions that impair the body's ability to convert fatty acids into energy, potentially leading to hypoglycemia, muscle weakness, liver dysfunction, and, in some cases, cardiac complications.

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Disorder of plasmalogens biosynthesis

Plasmalogen biosynthesis disorder is a rare genetic condition affecting the production of plasmalogens, a type of lipid essential for cellular functions, particularly in the nervous system and heart. This disorder can lead to neurological issues, developmental delays, and muscle or cardiac dysfunction.

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Peroxisome biogenesis disorder

Peroxisome biogenesis disorder is a rare genetic condition that disrupts the formation or function of peroxisomes, cellular organelles essential for fatty acid metabolism and detoxification. This disorder can cause neurological issues, skeletal abnormalities, and liver and kidney dysfunction.

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