0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP creatine N-phosphocreatine ADP 2 H( ).HP:0001319Neonatal hypotoniaMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia [pediascape.org]

[…] mitochondrial structural abnormalities Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Ullrich type Congenital myasthenic syndromes with glycosylation defect Congenital myopathy - cleft palate - malignant hyperthermia [csbg.cnb.csic.es]

At 6 months the child experienced an episode with high fever, and the presence of meningitis was later discounted. Subsequently, at 8 months, she suffered from afebrile seizures and showed a motor retardation of 2–3 months. [hmg.oxfordjournals.org]

However, the parents indicated that whenever she had a cold, she would easily collapse. [hmg.oxfordjournals.org]

At admission to the hospital, he was febrile, alert and without respiratory abnormalities, but with a heart rate of about 240 beats per minute. [hmg.oxfordjournals.org]

[…] deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transgrediens palmoplantar keratoderma of Siemens Transient bullous dermolysis of the newborn Transient familial neonatal hyperbilirubinemia Transient neonatal cyanosis [csbg.cnb.csic.es]

impairment-urinary anomalies Hypothyroidism - cleft palate Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism [csbg.cnb.csic.es]

At 3 years of age, the patient showed psychomotor retardation (she learned to walk at 2 years of age), severe mental retardation and a speech disorder, although visual contact appeared to be normal. [hmg.oxfordjournals.org]

[…] angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Alport syndrome Benign familial hematuria Nephrotic syndrome Focal segmental glomerulosclerosis Dent disease Urofacial syndrome Birt-Hogg-Dube syndrome Renal agenesis and Renal adysplasia Nephrolithiasis [csirnotes.com]

[…] type 1 Nephrolithiasis type 2 Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit Nephronophthisis with retinal dystrophy Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome Nephrotic syndrome-hearing [csbg.cnb.csic.es]

No activity of beta-ureidopropionase could be detected in a liver biopsy of the patient, while a normal activity of dihydropyrimidine dehydrogenase and dihydropyrimidinase was present. [ncbi.nlm.nih.gov]

No activity of β-ureidopropionase could be detected in a liver biopsy of the patient, while a normal activity of dihydropyrimidine dehydrogenase and dihydropyrimidinase was present. [link.springer.com]

[…] and dihydropyrimidine dehydrogenase was determined in a liver biopsy obtained from patient 3. [hmg.oxfordjournals.org]