Patients with muscle adenylate deaminase deficiency also appear to be at higher risk for malignant hyperthermia. In general, no specific therapy exists. Ribose administration has resulted in varying responses. [musculoskeletalkey.com]

bacterial infections, defective Ig class switching Treatment: Control of infections *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

Increased production of uric acid is found in malignancy; Reye syndrome; Down syndrome; psoriasis; sickle cell anemia; cyanotic congenital heart disease; pancreatic enzyme replacement; glycogen storage disease types I, III, IV, and V; hereditary fructose [clinicalgate.com]

[…] hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria, dysphagia [merckmanuals.com]

[…] hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria, dysphagia [merckmanuals.com]

AICA-RIBOSIDURIA (ATIC DEFICIENCY) In a female infant with profound mental retardation, dysmorphic features (prominent forehead, brachycephaly, wide mouth, low-set ears, prominent clitoris), and blindness, the following were identified: a massive excretion [obgynkey.com]

The type of behavior is different from that seen in other intellectual disability syndromes involving self-injury; self-hitting and head banging are the most common initial presentations in other syndromes. [clinicalgate.com]

More severely affected patients present with neonatal seizures. Hypotonia, autistic features, and growth retardation may occur. [musculoskeletalkey.com]

seizures, mild to profound mental retardation, and autistic features. [obgynkey.com]

[…] phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia [merckmanuals.com]

Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria [merckmanuals.com]

HPRT levels are related to the extent of motor symptoms, to the presence or absence of self-injury, and possibly to the level of cognitive function. The majority of individuals with classic LND have low or undetectable levels of the HPRT enzyme. [clinicalgate.com]

Renal dysfunction is thought to be related to underlying hypertension and renal vascular disease, rather than to hyperuricosuria. [musculoskeletalkey.com]

Recurrent episodes of monoarticular or multiarticular arthritis Treatment: No clear treatment Lesch-Nyhan syndrome (300322) Classic form Variant form Hypoxanthine-guanine phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria [merckmanuals.com]

This extremely rare, X-linked, gain-of-function enzyme anomaly causes hyperuricemia and hyperuricosuria in young adult males, which may lead to uric acid lithiasis, gouty arthritis, and renal insufficiency. [obgynkey.com]

Phosphoribosylpyrophosphate synthetase deficiency (311850) Phosphoribosylpyrophosphate synthetase PRPS1 (Xq22-q24) PRPS2 (Xp22.3-p22.2) Biochemical profile: Increased urinary orotate, hypouricemia Clinical features: Developmental disabilities, seizures with hypsarrhythmia [merckmanuals.com]

Supportive care, enzyme replacement, bone marrow or stem cell transplantation, experimental gene therapy Increased adenosine deaminase (102730) Adenosine deaminase ADA Biochemical profile: Mild hyperuricemia Clinical features: Hemolytic anemia with anisopoikilocytosis [merckmanuals.com]

Primary gout, ordinarily occurring in middle-aged men, results from overproduction of uric acid, decreased renal excretion of uric acid, or both. [clinicalgate.com]

bone marrow, ataxia, hypotonia, hypertonia, psychomotor delay, polyneuropathy, cardiomyopathy, heart failure, uric acid nephropathy and arthropathy, diabetes mellitus, intracerebral calcification Treatment: Allopurinol, anti-inflammatory drugs, colchicines [merckmanuals.com]

These deficiencies result in two types of orotic aciduria (type 1 and type 2) that cause retarded growth, and severe anemia associated with hypochromic erythrocytes and megaloblastic bone marrow, both of which are the result of the block to DNA synthesis [themedicalbiochemistrypage.org]