Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Motor delay MedGen UID: 381392 • Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

[…] reported Treatment: None needed D-glyceric aciduria (220120) D-glycerate kinase Not determined Biochemical profile: Elevated urinary D-glyceric acid Clinical features: Chronic acidosis, hypotonia, seizures, intellectual disability Treatment: Bicarbonate [merckmanuals.com]

Links Publisher Full Text Authors, ,, Source MeSH Adipates Adolescent Amino Acid Metabolism, Inborn Errors Humans Intellectual Disability Keto Acids Lysine Male Tryptophan Pub Type(s) Journal Article Language eng PubMed ID 1161338 Citation Wilson, R W [unboundmedicine.com]

Humangenetik 24:265–270 PubMed Google Scholar Gilissen C, Hehir-Kwa JY, Thung DT et al (2014) Genome sequencing identifies major causes of severe intellectual disability. [link.springer.com]

Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Motor delay MedGen UID: 381392 • Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. [sparrho.com]

delay Tricarboxylic Acid Cycle, Defect of X-linked sideroblastic anemia with ataxia [rgd.mcw.edu]

delay, hypotonia, extrapyramidal movements, seizures, autistic behavior Treatment: Creatine supplementation Cystinosis See Table Lysosomal Transport Defects *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [ncbi.nlm.nih.gov]

Benign epilepsy of childhood with occipital paroxysms (BECOP). Benign Myoclonic Epilepsy in Infancy (BMEI) Benign Neonatal Convulsions (BNC) Benign nonprogressive familial chorea Benign Rolandic Epilepsy (BRE). [neurometplus.com]

Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. [sparrho.com]

These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.ro]

This inflammation leads to abdominal pain, fatigue, diarrhoea, weight loss and malnutrition. [digestive-diseases.imedpub.com]

These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.ro]

Chest List of possible causes of Barrel Chest or similar symptoms may include: 2 Achondrogenesis type 1A (Barrel-shaped chest) Achondrogenesis type 2 (Barrel-shaped chest) Achondrogenesis, type IA (Barrel-shaped chest) Achondrogenesis, type II ... .. [familydiagnosis.com]

Symptoms INHERITANCE: Autosomal recessive RESPIRATORY: [Lung]; Bronchiectasis due to chronic upper respiratory tract infections CHEST: [External features]; Barrel chest SKELETAL: [Hands]; Clubbed fingers SKIN, NAILS, HAIR: [Skin]; Neonatal collodion skin [findzebra.com]

Symptoms INHERITANCE: Autosomal recessive RESPIRATORY: [Lung]; Bronchiectasis due to chronic upper respiratory tract infections CHEST: [External features]; Barrel chest SKELETAL: [Hands]; Clubbed fingers SKIN, NAILS, HAIR: [Skin]; Neonatal collodion skin [findzebra.com]

In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). [t3db.ca]

Disease KYP001 Kyrle Disease KYR001 [malacards.org]

Many childhood chronic diseases (eg, inflammatory bowel disease, cystic fibrosis, celiac disease, cancer, congenital heart disease, renal failure, hepatic diseases) are associated with increased nutritional requirements and metabolic demands or with decreased [studyres.com]

Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [ncbi.nlm.nih.gov]

myoclonus, apnea, death In infantile and episodic forms, seizures, intellectual disability, episodic delirium, chorea, vertical gaze palsy In late-onset form, progressive spastic diplegia, optic atrophy, but no cognitive impairment or seizures Treatment [merckmanuals.com]

Alpha ketoadipic aciduria Enzyme: alpha ketoadipic dehydrogenase -lysine/tryptophan build up Symptom: seizures, motor development issues MNT - decrease lysine /tryptophan 2. [quizlet.com]

Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Eyes]; Esotropia; Telecanthus; Hypertelorism NEUROLOGIC: [Central nervous system]; Pachygyria, bilateral frontotemporal; Mental retardation, moderate ; Seizure, febrile (2/3 children); [Peripheral [findzebra.com]

Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.ro]

neuropathy, myopathy Treatment: No clear treatment; avoidance of drugs that trigger hemolytic crisis in G6PD deficiency Pyroglutamic aciduria (5-oxoprolinuria; 266130, 231900) Glutathione synthetase GSS (20q11.2)* Biochemical profile: Elevated urinary [merckmanuals.com]

signs, and elevated cerebrospinal fluid protein. [phid.ditad.org]

signs, and elevated cerebrospinal fluid protein (PMID: 10655159, 16183823, 11083877 ). [hmdb.ca]

Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.ro]

In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures. [t3db.ca]