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Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum diso

Discussion in 'Other Health News and Research' started by pattismith, Oct 1, 2017.

  1. pattismith

    pattismith Senior Member

    A very interesting paper (june 2015) that may be a guide for testing CFS/ME patients as well (keep in mind that congenital or post natal onset always leads to more severe clinical features than later in life onset, if we consider the metabolic diseases in this list that are susceptible to adult onset)

    ....This paper provides an overview of these metabolic disorders in the context of ASD and discusses their characteristics, diagnostic testing, and treatment with concentration on mitochondrial disorders. To this end, this paper aims to help optimize the diagnosis and treatment of children with ASD and epilepsy."


    Table 1. Metabolic disorders associated with epilepsy and autism spectrum disorder.

    Disorder / Clinical features / Diagnostic testing

    I-Disorders of energy metabolism
    I.1-Mitochondrial diseases

    Developmental regression, gross motor delay, fatigability, ataxia, and gastrointestinal abnormalities
    • Fasting serum lactate, pyruvate, acylcarnitine, amino acids, and urine organic acids

    I.2-Creatine metabolism disorders
    Developmental regression, mental retardation, dyskinesia, and family history of x-linked mental retardation
    • Magnetic resonance spectroscopy
    • Urine and serum creatine and guanidinoacetic acid

    II-Disorders of cholesterol metabolism
    Smith–Lemli–Opitz syndrome Low birth weight, failure to thrive, poor feeding, eczema, and congenital structural abnormalities of the heart, gastrointestinal tract, genitalia, kidney, limbs, face, and brain
    • Blood 7-dehydrocholesterol and cholesterol
    • DHCR7 sequencing

    III-Disorders of cofactor (vitamin) metabolism
    III.1-Cerebral folate deficiency
    Ataxia, pyramidal signs, acquired microcephaly, dyskinesias, and visual and hearing loss
    • Folate receptor alpha autoantibody
    • Cerebrospinal fluid 5-methyltetrahydrofolate

    III.2-Pyridoxine-dependent and pyridoxine-responsive seizures
    Mental retardation, breath-holding, aerophagia, and self-injurious behavior
    • Pyridoxine trial
    • Plasma and cerebrospinal fluid pipecolic acid
    • Urine α-aminoadipic semialdehyde
    ALDH7A1 sequencing

    III.3-Biotinidase deficiency

    Developmental delays, seborrheic dermatitis, alopecia, feeding difficulties, vomiting, diarrhea, brain atrophy, and ataxia
    • Biotinidase activity
    • BTD gene sequencing

    III.4-Carnitine biosynthesis deficiency
    Nondysmorphic male–male siblings with autism spectrum disorder
    • Plasma and/or urine 6-N-trimethyllysine, 3-hydroxy-6-N-trimethyllysine, and γ-butyrobetaine.

    IV-Disorders of γ-aminobutyric acid metabolism
    Succinic semialdehyde dehydrogenase deficiency
    Global developmental delay, myoclonus, hallucinations, ataxia, choreoathetosis, and dystonia
    • Urine gamma-hydroxybutyric acid

    V-Disorders of pyrimidine and purine metabolism
    V.1-Adenylosuccinate lyase deficiency

    Global developmental delay, microcephaly, distinct facies, growth retardation, mental retardation, cerebellar vermis hypoplasia, brain atrophy, excessive laughter, and extreme happiness
    • Urine and/or cerebrospinal fluid succinyladenosine

    V.2-Nucleotidase-associated PDD Hyperactivity,
    compulsiveness, speech abnormalities, ataxia, abnormal gait, and frequent infections
    • Urine uridine


    autism Altered sensory awareness, ataxia, and fine motor deficits
    • 24-hour urine urate

    V.4-Phosphoribosylpyrophosphate synthetase deficiency
    Developmental delay and ataxia • Urine uric and orotic acids
    • Complete blood count

    VI-Disorders of amino acid metabolism

    Global developmental delay, mental retardation, microcephaly, spasticity, ataxia, poor growth, poor skin pigmentation, and aggressive behavior
    • Serum phenylalanine

    VI.2-Branched-chain ketoacid dehydrogenase kinase deficiency

    Intellectual disability and consanguinity
    • Plasma and cerebrospinal fluid branched-chain amino acids

    VI.3-Altered tryptophan metabolism
    No specific features besides autism spectrum disorder
    • Reduced cellular generation of nicotinamide adenine dinucleotide

    VII-Urea cycle disorders
    Urea cycle disorder

    Protein intolerance, temperature instability, ataxia, episodic somnolence and lethargy, cyclic vomiting, and psychosis
    • Plasma ammonia and amino acids
    • Urinary orotic acid
    wastwater likes this.
  2. pattismith

    pattismith Senior Member

    A1.3 Disorders of Ammonia Detoxification
    Treatment requires
    - reduction of Protein intake, together with
    -supplementation with essential amino acids,
    -avoidance of catabolitic states
    -administration of benzoate or phenylacetate/phenylbutyrate, which remove nitrogen in the form of alternative conjugates of amino acids such as glycine and glutamine.

    upload_2017-10-1_22-36-5.png metabolism mitochondria&f=false

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